Variant report

Variant	esv12569
Chromosome Location	chr1:59247251-59250394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1323)
CpG islands
(count:1222)
Chromatin interactive
region (count:123)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:59249574-59250036	K562	blood:	n/a	n/a
2	ARID3A	chr1:59244726-59247751	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:59249508-59250062	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:59247837-59247901	K562	blood:	n/a	n/a
5	ATF1	chr1:59249503-59250994	K562	blood:	n/a	n/a
6	ATF2	chr1:59249175-59251069	GM12878	blood:	n/a	n/a
7	ATF2	chr1:59248652-59250554	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:59249222-59250919	GM12878	blood:	n/a	n/a
9	ATF2	chr1:59248341-59248794	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr1:59248912-59251252	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr1:59249378-59249840	A549	lung:	n/a	chr1:59249775-59249788 chr1:59249823-59249832 chr1:59249776-59249789
12	ATF3	chr1:59249567-59249855	K562	blood:	n/a	chr1:59249775-59249788 chr1:59249823-59249832 chr1:59249776-59249789
13	ATF3	chr1:59249474-59250145	K562	blood:	n/a	chr1:59249775-59249788 chr1:59250033-59250046 chr1:59249823-59249832 chr1:59249776-59249789 chr1:59250030-59250044
14	ATF3	chr1:59249458-59250169	A549	lung:	n/a	chr1:59249775-59249788 chr1:59250033-59250046 chr1:59249823-59249832 chr1:59249776-59249789 chr1:59250030-59250044
15	BACH1	chr1:59248945-59248958	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr1:59249393-59249721	K562	blood:	n/a	n/a
17	BACH1	chr1:59249279-59251290	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:59248394-59248645	K562	blood:	n/a	n/a
19	BACH1	chr1:59246836-59248091	K562	blood:	n/a	n/a
20	BACH1	chr1:59247375-59247870	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr1:59249486-59250107	GM12878	blood:	n/a	n/a
22	BCL11A	chr1:59249555-59250211	GM12878	blood:	n/a	chr1:59249842-59249851
23	BCL3	chr1:59249904-59250401	A549	lung:	n/a	chr1:59250315-59250324
24	BCL3	chr1:59249500-59250217	A549	lung:	n/a	chr1:59249842-59249851
25	BCLAF1	chr1:59247268-59247854	GM12878	blood:	n/a	n/a
26	BCLAF1	chr1:59249131-59249794	K562	blood:	n/a	chr1:59249171-59249180 chr1:59249404-59249417 chr1:59249195-59249208 chr1:59249467-59249475
27	BCLAF1	chr1:59249190-59251141	GM12878	blood:	n/a	chr1:59251013-59251022 chr1:59249404-59249417 chr1:59249195-59249208 chr1:59249467-59249475 chr1:59250315-59250324 chr1:59249842-59249851 chr1:59250700-59250709
28	BCLAF1	chr1:59248881-59250228	K562	blood:	n/a	chr1:59249171-59249180 chr1:59249404-59249417 chr1:59249195-59249208 chr1:59249467-59249475 chr1:59249121-59249134 chr1:59249842-59249851
29	BCLAF1	chr1:59245006-59248170	K562	blood:	n/a	n/a
30	BCLAF1	chr1:59249307-59251029	GM12878	blood:	n/a	chr1:59251013-59251022 chr1:59249404-59249417 chr1:59249467-59249475 chr1:59250315-59250324 chr1:59249842-59249851 chr1:59250700-59250709
31	BCLAF1	chr1:59247316-59248091	K562	blood:	n/a	n/a
32	BCLAF1	chr1:59247932-59248779	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:59247406-59251287	HepG2	liver:	n/a	chr1:59250255-59250271 chr1:59249401-59249417 chr1:59248756-59248769 chr1:59249198-59249214 chr1:59249193-59249209 chr1:59249190-59249206
34	BHLHE40	chr1:59249397-59251318	K562	blood:	n/a	chr1:59250255-59250271 chr1:59249401-59249417
35	BHLHE40	chr1:59247403-59249158	K562	blood:	n/a	chr1:59248756-59248769
36	BHLHE40	chr1:59247406-59250244	GM12878	blood:	n/a	chr1:59249401-59249417 chr1:59248756-59248769 chr1:59249198-59249214 chr1:59249193-59249209 chr1:59249190-59249206
37	BRCA1	chr1:59250231-59250396	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr1:59248800-59249850	HepG2	liver:	n/a	n/a
39	BRCA1	chr1:59248919-59249064	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr1:59248257-59248350	HepG2	liver:	n/a	n/a
41	BRCA1	chr1:59247455-59247822	HepG2	liver:	n/a	n/a
42	BRCA1	chr1:59249316-59250281	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr1:59247448-59247880	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr1:59250102-59250420	GM12878	blood:	n/a	n/a
45	CBX3	chr1:59247927-59248523	K562	blood:	n/a	n/a
46	CBX3	chr1:59247332-59247811	K562	blood:	n/a	n/a
47	CBX3	chr1:59249341-59250501	K562	blood:	n/a	n/a
48	CCNT2	chr1:59247344-59251139	K562	blood:	n/a	chr1:59251021-59251030 chr1:59251014-59251023 chr1:59249183-59249192
49	CEBPB	chr1:59249571-59250219	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:59249483-59250219	K562	blood:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:59249665-59249715	HRE	kidney:	n/a
2	chr1:59249828-59249878	RPTEC	kidney:	n/a
3	chr1:59249665-59249715	HRE	kidney:	n/a
4	chr1:59249828-59249878	RPTEC	kidney:	n/a
5	chr1:59249324-59249374	HMEC	breast:	n/a
6	chr1:59248412-59248462	ovcar-3	ovarian:	n/a
7	chr1:59249324-59249374	H1-hESC	embryonic stem cell:	embryo
8	chr1:59248673-59248723	GM12891	blood:	n/a
9	chr1:59249811-59249861	AG09319	gingival:	n/a
10	chr1:59248148-59248198	PFSK-1	brain:	n/a
11	chr1:59249665-59249715	T-47D	breast:	n/a
12	chr1:59247487-59247537	RPTEC	kidney:	n/a
13	chr1:59247425-59247475	Jurkat	blood:	n/a
14	chr1:59247797-59247847	GM06990	blood:	n/a
15	chr1:59248412-59248462	AG04450	lung:	fetal
16	chr1:59247592-59247642	HCF	heart:	n/a
17	chr1:59248148-59248198	HEEpiC	esophagus:	n/a
18	chr1:59247592-59247642	GM12878	blood:	n/a
19	chr1:59248878-59248928	GM12891	blood:	n/a
20	chr1:59247425-59247475	GM12891	blood:	n/a
21	chr1:59249911-59249961	LNCaP	prostate:	n/a
22	chr1:59247425-59247475	HCF	heart:	n/a
23	chr1:59247603-59247653	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:59249665-59249715	Jurkat	blood:	n/a
25	chr1:59247603-59247653	CMK	blood:	n/a
26	chr1:59249324-59249374	HCF	heart:	n/a
27	chr1:59249834-59249884	HUVEC	blood vessel:	n/a
28	chr1:59248673-59248723	CMK	blood:	n/a
29	chr1:59249834-59249884	GM12878	blood:	n/a
30	chr1:59248280-59248330	NB4	blood:	n/a
31	chr1:59247425-59247475	HUVEC	blood vessel:	n/a
32	chr1:59248878-59248928	ECC-1	luminal epithelium:	n/a
33	chr1:59248148-59248198	SK-N-SH_RA	brain:	n/a
34	chr1:59249834-59249884	Hepatocyte	liver:	n/a
35	chr1:59247797-59247847	NB4	blood:	n/a
36	chr1:59249828-59249878	Jurkat	blood:	n/a
37	chr1:59247425-59247475	Caco-2	colon:	n/a
38	chr1:59249324-59249374	ProgFib	skin:	n/a
39	chr1:59249324-59249374	AG04449	skin:	fetal
40	chr1:59247425-59247475	H1-hESC	embryonic stem cell:	embryo
41	chr1:59249911-59249961	GM12892	blood:	n/a
42	chr1:59249838-59249888	T-47D	breast:	n/a
43	chr1:59247487-59247537	HepG2	liver:	n/a
44	chr1:59248148-59248198	H1-hESC	embryonic stem cell:	embryo
45	chr1:59249324-59249374	NHDF-neo	bronchial:	n/a
46	chr1:59248280-59248330	HepG2	liver:	n/a
47	chr1:59247797-59247847	HAEpiC	amniotic membrane:	n/a
48	chr1:59248280-59248330	PrEC	prostate:	n/a
49	chr1:59248148-59248198	MCF-7	breast:	n/a
50	chr1:59248148-59248198	SAEC	small airway:	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:59247110..59248672-chr1:59523217..59525138,2	MCF-7	breast:
2	chr1:59245914..59247946-chr1:59568208..59571099,2	K562	blood:
3	chr1:59244169..59247928-chr1:60060481..60064138,5	K562	blood:
4	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
5	chr1:59244308..59248659-chr1:59395754..59399809,6	K562	blood:
6	chr1:45196303..45197166-chr1:59249336..59250143,2	Hela-S3	cervix:
7	chr1:59246945..59249154-chr1:59305966..59308006,2	K562	blood:
8	chr1:59247660..59249261-chr1:59326768..59328328,2	K562	blood:
9	chr1:59244855..59247592-chr1:59314391..59317376,4	K562	blood:
10	chr1:59249836..59250523-chr5:137909713..137910517,2	Hela-S3	cervix:
11	chr1:59245573..59247756-chr1:59431368..59433217,2	K562	blood:
12	chr1:59249568..59250095-chr10:91404878..91405691,2	Hela-S3	cervix:
13	chr1:52830101..52832396-chr1:59247801..59250793,2	K562	blood:
14	chr1:59249602..59250123-chr9:34612018..34612614,2	Hela-S3	cervix:
15	chr1:59245718..59248161-chr1:59323277..59324885,2	MCF-7	breast:
16	chr1:59244876..59251429-chr1:59540803..59548111,10	K562	blood:
17	chr1:59248192..59249746-chr1:60156030..60158345,2	MCF-7	breast:
18	chr1:59246648..59248452-chr1:59606800..59609133,2	K562	blood:
19	chr1:59247372..59249608-chr1:59323526..59327385,3	MCF-7	breast:
20	chr1:59246838..59249667-chr1:59504276..59507925,4	K562	blood:
21	chr1:59246529..59249235-chr1:59474703..59476422,2	K562	blood:
22	chr1:59249252..59250042-chr1:161015502..161016271,2	Hela-S3	cervix:
23	chr1:59090976..59093399-chr1:59246323..59248147,2	K562	blood:
24	chr1:59245887..59249534-chr1:59455949..59458682,3	K562	blood:
25	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
26	chr1:59244855..59247331-chr1:59314391..59317376,3	K562	blood:
27	chr1:59249695..59250360-chr18:61637493..61638045,2	Hela-S3	cervix:
28	chr1:59244238..59248031-chr1:59689062..59692608,4	K562	blood:
29	chr1:59249289..59250803-chr1:59761583..59764317,2	K562	blood:
30	chr1:59249638..59250522-chr8:97247364..97248212,2	Hela-S3	cervix:
31	chr1:59248724..59251140-chr1:59611823..59614628,3	MCF-7	breast:
32	chr1:59249984..59250670-chr1:59281053..59281725,3	Hela-S3	cervix:
33	chr1:59245413..59247668-chr1:59556426..59558102,2	K562	blood:
34	chr1:59245570..59248484-chr1:61782798..61784305,2	K562	blood:
35	chr1:59175452..59177731-chr1:59245547..59247595,2	K562	blood:
36	chr1:59245468..59247818-chr1:60192716..60195301,2	K562	blood:
37	chr1:59246163..59248652-chr1:59466870..59469148,2	K562	blood:
38	chr1:59010838..59012578-chr1:59247144..59249684,2	K562	blood:
39	chr1:59249627..59250197-chr14:90862800..90863596,2	HCT-116	colon:
40	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
41	chr1:59246576..59248497-chr1:59492481..59494688,2	K562	blood:
42	chr1:59246671..59249127-chr1:59295559..59298699,3	K562	blood:
43	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
44	chr1:59246525..59249398-chr1:60121634..60124612,2	K562	blood:
45	chr1:59245041..59248743-chr1:59419593..59423853,4	K562	blood:
46	chr1:59249160..59250037-chr11:394214..394851,2	Hela-S3	cervix:
47	chr1:59248634..59251587-chr1:59519796..59523397,3	K562	blood:
48	chr1:59245185..59249625-chr1:59318506..59322949,5	K562	blood:
49	chr1:59249378..59250086-chr12:104359514..104360028,2	Hela-S3	cervix:
50	chr1:59249067..59249615-chr17:49198718..49199240,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
JUN	TF binding region
LINC01135	TF binding region
JUN	CpG island
LINC01135	CpG island
ENSG00000270022	chromatin interactions
ENSG00000272226	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000222168	chromatin interactions
ENSG00000235215	chromatin interactions
ENSG00000186792	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000030066	chromatin interactions
ENSG00000224609	chromatin interactions
ENSG00000169926	chromatin interactions
ENSG00000162601	chromatin interactions
ENSG00000198000	chromatin interactions
ENSG00000154222	chromatin interactions
ENSG00000156467	chromatin interactions
ENSG00000241042	chromatin interactions
ENSG00000172456	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000152782	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000105011	chromatin interactions
ENSG00000264081	chromatin interactions
ENSG00000164967	chromatin interactions
ENSG00000173406	chromatin interactions
ENSG00000184363	chromatin interactions
ENSG00000188312	chromatin interactions
ENSG00000158773	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000155313	chromatin interactions
ENSG00000231740	chromatin interactions
ENSG00000162600	chromatin interactions
ENSG00000106615	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000102554	chromatin interactions
ENSG00000232936	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000243477	chromatin interactions
ENSG00000237352	chromatin interactions
ENSG00000249962	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000254224	chromatin interactions
ENSG00000228121	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000129351	chromatin interactions
ENSG00000184428	chromatin interactions
ENSG00000232453	chromatin interactions
ENSG00000166401	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544988738	chr1:59247267-59247268	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs564885432	chr1:59247274-59247275	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs367802611	chr1:59247327-59247328	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs374732427	chr1:59247357-59247358	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs533622284	chr1:59247365-59247366	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs201972125	chr1:59247385-59247386	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs550539808	chr1:59247412-59247413	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs56090866	chr1:59247492-59247493	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs529523535	chr1:59247500-59247501	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs4647015	chr1:59247519-59247520	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372170606	chr1:59247526-59247527	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs534823249	chr1:59247624-59247625	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs141748428	chr1:59247658-59247659	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs371758239	chr1:59247659-59247660	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs182016093	chr1:59247683-59247684	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs11550970	chr1:59247713-59247714	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556872427	chr1:59247714-59247715	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs573734219	chr1:59247718-59247719	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs200548341	chr1:59247724-59247725	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs187628675	chr1:59247733-59247734	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs146687167	chr1:59247780-59247781	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs190754089	chr1:59247834-59247835	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs545130670	chr1:59247840-59247841	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs9989	chr1:59247853-59247854	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs571546295	chr1:59247855-59247856	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs367702733	chr1:59247895-59247896	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs11688	chr1:59247993-59247994	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143833620	chr1:59247996-59247997	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs373150139	chr1:59248035-59248036	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs143954364	chr1:59248050-59248051	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs377289876	chr1:59248085-59248086	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs575349868	chr1:59248090-59248091	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs200099360	chr1:59248092-59248093	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs202028796	chr1:59248094-59248095	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs529578118	chr1:59248122-59248123	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs370122841	chr1:59248123-59248124	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs559705593	chr1:59248138-59248139	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs528518038	chr1:59248149-59248150	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs551506166	chr1:59248169-59248170	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs571292563	chr1:59248176-59248177	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs537077141	chr1:59248190-59248191	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs550721863	chr1:59248203-59248204	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs4647014	chr1:59248221-59248222	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs79353574	chr1:59248246-59248247	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs374593166	chr1:59248309-59248310	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs536167705	chr1:59248325-59248326	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs200708109	chr1:59248339-59248340	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs573002199	chr1:59248354-59248355	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs538725916	chr1:59248356-59248357	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs370449022	chr1:59248385-59248386	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59239800-59247400	Weak transcription	Gastric	stomach
2	chr1:59245200-59251400	Active TSS	Aorta	Aorta
3	chr1:59245400-59247600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:59245600-59247400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:59245600-59247400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:59245600-59247600	Active TSS	Right Ventricle	heart
7	chr1:59245600-59247600	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:59245600-59250600	Active TSS	HMEC	breast
9	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
10	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
11	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:59245800-59248400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr1:59245800-59248800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
14	chr1:59246000-59247400	Active TSS	NHLF	lung
15	chr1:59246000-59247600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:59246000-59247800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:59246000-59248000	Active TSS	Right Atrium	heart
18	chr1:59246000-59248400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:59246000-59251200	Active TSS	Liver	Liver
20	chr1:59246200-59247400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:59246200-59247400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
22	chr1:59246200-59247600	Flanking Active TSS	Fetal Brain Male	brain
23	chr1:59246200-59248800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:59246200-59251600	Active TSS	Fetal Kidney	kidney
25	chr1:59246400-59247400	Active TSS	Fetal Intestine Large	intestine
26	chr1:59246400-59247400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:59246400-59248600	Transcr. at gene 5' and 3'	Osteobl	bone
28	chr1:59246400-59251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:59246600-59247400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:59246600-59247400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:59246600-59247400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:59246600-59247400	Active TSS	Colonic Mucosa	Colon
33	chr1:59246600-59247400	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:59246600-59247400	Bivalent/Poised TSS	Thymus	Thymus
35	chr1:59246600-59247800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:59246600-59247800	Active TSS	Lung	lung
37	chr1:59246600-59248200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:59246600-59248400	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
39	chr1:59246600-59248400	Active TSS	GM12878-XiMat	blood
40	chr1:59246600-59249000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
41	chr1:59246600-59251200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:59246600-59251200	Active TSS	A549	lung
43	chr1:59246600-59251400	Active TSS	Ovary	ovary
44	chr1:59246800-59247400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr1:59246800-59247400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:59246800-59247400	Active TSS	Fetal Muscle Leg	muscle
47	chr1:59246800-59247400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr1:59246800-59247600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:59246800-59247600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:59246800-59247600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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