Variant report

Variant	esv1800997
Chromosome Location	chr1:59249031-59250312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:59249508-59250062	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:59249574-59250036	K562	blood:	n/a	n/a
3	ATF1	chr1:59249503-59250994	K562	blood:	n/a	n/a
4	ATF2	chr1:59249175-59251069	GM12878	blood:	n/a	n/a
5	ATF2	chr1:59248652-59250554	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:59249222-59250919	GM12878	blood:	n/a	n/a
7	ATF2	chr1:59248912-59251252	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr1:59249378-59249840	A549	lung:	n/a	chr1:59249775-59249788 chr1:59249823-59249832 chr1:59249776-59249789
9	ATF3	chr1:59249567-59249855	K562	blood:	n/a	chr1:59249775-59249788 chr1:59249823-59249832 chr1:59249776-59249789
10	ATF3	chr1:59249458-59250169	A549	lung:	n/a	chr1:59249775-59249788 chr1:59250033-59250046 chr1:59249823-59249832 chr1:59249776-59249789 chr1:59250030-59250044
11	ATF3	chr1:59249474-59250145	K562	blood:	n/a	chr1:59249775-59249788 chr1:59250033-59250046 chr1:59249823-59249832 chr1:59249776-59249789 chr1:59250030-59250044
12	BACH1	chr1:59249393-59249721	K562	blood:	n/a	n/a
13	BACH1	chr1:59249279-59251290	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr1:59249486-59250107	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:59249555-59250211	GM12878	blood:	n/a	chr1:59249842-59249851
16	BCL3	chr1:59249904-59250401	A549	lung:	n/a	chr1:59250315-59250324
17	BCL3	chr1:59249500-59250217	A549	lung:	n/a	chr1:59249842-59249851
18	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
19	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
20	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
21	BCLAF1	chr1:59249131-59249794	K562	blood:	n/a	chr1:59249171-59249180 chr1:59249404-59249417 chr1:59249195-59249208 chr1:59249467-59249475
22	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
23	BHLHE40	chr1:59247406-59250244	GM12878	blood:	n/a	chr1:59249401-59249417 chr1:59248756-59248769 chr1:59249198-59249214 chr1:59249193-59249209 chr1:59249190-59249206
24	BHLHE40	chr1:59249397-59251318	K562	blood:	n/a	chr1:59250255-59250271 chr1:59249401-59249417
25	BHLHE40	chr1:59247403-59249158	K562	blood:	n/a	chr1:59248756-59248769
26	BRCA1	chr1:59250231-59250396	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:59248919-59249064	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:59249316-59250281	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr1:59250102-59250420	GM12878	blood:	n/a	n/a
30	BRCA1	chr1:59248800-59249850	HepG2	liver:	n/a	n/a
31	CBX3	chr1:59249341-59250501	K562	blood:	n/a	n/a
32	CCNT2	chr1:59247344-59251139	K562	blood:	n/a	chr1:59251021-59251030 chr1:59251014-59251023 chr1:59249183-59249192
33	CEBPB	chr1:59249581-59250179	A549	lung:	n/a	n/a
34	CEBPB	chr1:59249270-59250400	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr1:59249571-59250219	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:59249408-59250036	GM12878	blood:	n/a	n/a
37	CEBPB	chr1:59249534-59249828	GM12878	blood:	n/a	n/a
38	CEBPB	chr1:59249566-59250239	IMR90	lung:	n/a	n/a
39	CEBPB	chr1:59249577-59250055	K562	blood:	n/a	n/a
40	CEBPB	chr1:59249495-59250036	A549	lung:	n/a	n/a
41	CEBPB	chr1:59249483-59250219	K562	blood:	n/a	n/a
42	CEBPB	chr1:59250253-59251061	GM12878	blood:	n/a	n/a
43	CEBPB	chr1:59249433-59250129	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr1:59249607-59250050	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPD	chr1:59249330-59250545	K562	blood:	n/a	n/a
46	CEBPD	chr1:59249515-59249805	HepG2	liver:	n/a	n/a
47	CEBPD	chr1:59249449-59250423	HepG2	liver:	n/a	n/a
48	CEBPD	chr1:59247257-59249120	K562	blood:	n/a	n/a
49	CEBPD	chr1:59249329-59250304	K562	blood:	n/a	n/a
50	CHD1	chr1:59248823-59251053	GM12878	blood:	n/a	chr1:59250203-59250213

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:59249834-59249884	HRE	kidney:	n/a
2	chr1:59249828-59249878	AoSMC	blood vessel:	n/a
3	chr1:59250203-59250253	SK-N-SH	brain:	n/a
4	chr1:59249665-59249715	HRE	kidney:	n/a
5	chr1:59249838-59249888	GM12892	blood:	n/a
6	chr1:59249911-59249961	Caco-2	colon:	n/a
7	chr1:59249218-59249268	HRCEpiC	kidney:	n/a
8	chr1:59249834-59249884	GM12892	blood:	n/a
9	chr1:59249834-59249884	H1-hESC	embryonic stem cell:	embryo
10	chr1:59250203-59250253	PrEC	prostate:	n/a
11	chr1:59249665-59249715	Hela-S3	cervix:	n/a
12	chr1:59249324-59249374	ovcar-3	ovarian:	n/a
13	chr1:59249838-59249888	T-47D	breast:	n/a
14	chr1:59249883-59249933	Jurkat	blood:	n/a
15	chr1:59249883-59249933	NHDF-neo	bronchial:	n/a
16	chr1:59249834-59249884	SKMC	muscle:	n/a
17	chr1:59249828-59249878	A549	lung:	n/a
18	chr1:59250203-59250253	PANC-1	pancreas:	n/a
19	chr1:59249838-59249888	HRPEpiC	eye:	n/a
20	chr1:59249324-59249374	HEEpiC	esophagus:	n/a
21	chr1:59249811-59249861	MCF-7	breast:	n/a
22	chr1:59249883-59249933	PFSK-1	brain:	n/a
23	chr1:59249218-59249268	AoSMC	blood vessel:	n/a
24	chr1:59249834-59249884	ProgFib	skin:	n/a
25	chr1:59250203-59250253	SK-N-MC	brain:	n/a
26	chr1:59249324-59249374	Caco-2	colon:	n/a
27	chr1:59249665-59249715	GM06990	blood:	n/a
28	chr1:59249665-59249715	HRPEpiC	eye:	n/a
29	chr1:59249838-59249888	HAEpiC	amniotic membrane:	n/a
30	chr1:59249834-59249884	T-47D	breast:	n/a
31	chr1:59250203-59250253	ProgFib	skin:	n/a
32	chr1:59249324-59249374	GM19239	blood:	n/a
33	chr1:59250203-59250253	AG09309	skin:	n/a
34	chr1:59249665-59249715	HepG2	liver:	n/a
35	chr1:59249811-59249861	GM12892	blood:	n/a
36	chr1:59249911-59249961	SK-N-SH	brain:	n/a
37	chr1:59249838-59249888	HEEpiC	esophagus:	n/a
38	chr1:59249883-59249933	MCF-7	breast:	n/a
39	chr1:59249324-59249374	BE2_C	brain:	n/a
40	chr1:59249828-59249878	HRE	kidney:	n/a
41	chr1:59249828-59249878	AG09309	skin:	n/a
42	chr1:59249911-59249961	HL-60	blood:	n/a
43	chr1:59249218-59249268	SK-N-SH_RA	brain:	n/a
44	chr1:59249828-59249878	HUVEC	blood vessel:	n/a
45	chr1:59249828-59249878	NHDF-neo	bronchial:	n/a
46	chr1:59250203-59250253	NB4	blood:	n/a
47	chr1:59249218-59249268	HepG2	liver:	n/a
48	chr1:59249665-59249715	AG09309	skin:	n/a
49	chr1:59249911-59249961	HNPCEpiC	eye:	n/a
50	chr1:59249811-59249861	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59246920..59249651-chr1:59428751..59431071,2	K562	blood:
2	chr1:59249568..59250095-chr10:91404878..91405691,2	Hela-S3	cervix:
3	chr1:59249984..59250670-chr1:59281053..59281725,3	Hela-S3	cervix:
4	chr1:59245650..59249709-chr1:60164316..60166597,3	MCF-7	breast:
5	chr1:59249067..59249615-chr17:49198718..49199240,2	Hela-S3	cervix:
6	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
7	chr1:59248634..59251587-chr1:59519796..59523397,3	K562	blood:
8	chr1:59246671..59249127-chr1:59295559..59298699,3	K562	blood:
9	chr1:59249160..59250037-chr11:394214..394851,2	Hela-S3	cervix:
10	chr1:59249378..59250086-chr12:104359514..104360028,2	Hela-S3	cervix:
11	chr1:59249398..59250266-chr11:62608563..62609478,2	HCT-116	colon:
12	chr1:59246435..59249254-chr1:59487144..59489692,2	MCF-7	breast:
13	chr1:59248192..59249746-chr1:60156030..60158345,2	MCF-7	breast:
14	chr1:59229058..59237226-chr1:59244356..59250672,11	MCF-7	breast:
15	chr1:59247372..59249608-chr1:59323526..59327385,3	MCF-7	breast:
16	chr1:59245007..59249031-chr1:59898130..59900045,3	MCF-7	breast:
17	chr1:59249836..59250523-chr5:137909713..137910517,2	Hela-S3	cervix:
18	chr1:59249246..59249747-chr15:31618877..31619419,2	Hela-S3	cervix:
19	chr1:59246838..59249667-chr1:59504276..59507925,4	K562	blood:
20	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
21	chr1:59247660..59249261-chr1:59326768..59328328,2	K562	blood:
22	chr1:59249248..59249750-chr1:210546978..210547575,2	Hela-S3	cervix:
23	chr1:59249358..59250200-chr22:43011055..43011957,2	Hela-S3	cervix:
24	chr1:59249627..59250197-chr14:90862800..90863596,2	HCT-116	colon:
25	chr1:59247150..59249652-chr1:59355694..59357549,2	MCF-7	breast:
26	chr1:59249653..59250360-chr11:47869934..47870678,2	Hela-S3	cervix:
27	chr1:59246523..59249295-chr1:59324032..59326684,3	K562	blood:
28	chr1:59248724..59251140-chr1:59611823..59614628,3	MCF-7	breast:
29	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
30	chr1:59246945..59249154-chr1:59305966..59308006,2	K562	blood:
31	chr1:59247984..59249689-chr1:59605689..59608661,2	MCF-7	breast:
32	chr1:59249289..59250803-chr1:59761583..59764317,2	K562	blood:
33	chr1:59246529..59249235-chr1:59474703..59476422,2	K562	blood:
34	chr1:28974694..28975252-chr1:59249262..59249999,2	Hela-S3	cervix:
35	chr1:59162606..59168890-chr1:59243728..59252069,16	K562	blood:
36	chr1:59248023..59251652-chr1:59759822..59764138,5	MCF-7	breast:
37	chr1:59247291..59249563-chr1:59804823..59806731,2	K562	blood:
38	chr1:59247035..59249570-chr1:59509015..59511217,2	K562	blood:
39	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
40	chr1:59249789..59250484-chr21:38738324..38739147,2	Hela-S3	cervix:
41	chr1:59163564..59170812-chr1:59245390..59251956,13	K562	blood:
42	chr1:59249430..59250092-chr19:14247103..14247743,2	HCT-116	colon:
43	chr1:59249695..59250360-chr18:61637493..61638045,2	Hela-S3	cervix:
44	chr1:46215764..46216413-chr1:59249299..59250095,2	Hela-S3	cervix:
45	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
46	chr1:59248968..59249762-chr12:7052577..7053312,2	Hela-S3	cervix:
47	chr1:59249252..59250042-chr1:161015502..161016271,2	Hela-S3	cervix:
48	chr1:59010838..59012578-chr1:59247144..59249684,2	K562	blood:
49	chr1:59249165..59249981-chr21:47705888..47706633,2	Hela-S3	cervix:
50	chr1:59154836..59157699-chr1:59248547..59250761,2	MCF-7	breast:

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

Extended variants
information (count: 48 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2811894	chr1:59249031-59249032	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372931310	chr1:59249043-59249044	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs543295615	chr1:59249052-59249053	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs553420426	chr1:59249092-59249093	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs573224691	chr1:59249119-59249120	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs368638039	chr1:59249178-59249179	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs141819215	chr1:59249221-59249222	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
8	rs576731277	chr1:59249262-59249263	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
9	rs4647010	chr1:59249268-59249269	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs182750223	chr1:59249328-59249329	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
11	rs1407816	chr1:59249347-59249348	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs199556094	chr1:59249356-59249357	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
13	rs4647009	chr1:59249359-59249360	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
14	rs67858860	chr1:59249360-59249361	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
15	rs398069477	chr1:59249361-59249362	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs544428918	chr1:59249440-59249441	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs4647008	chr1:59249445-59249446	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs3833546	chr1:59249497-59249498	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
19	rs397840860	chr1:59249501-59249502	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
20	rs530071632	chr1:59249546-59249547	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
21	rs375967861	chr1:59249548-59249549	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
22	rs3748814	chr1:59249568-59249569	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
23	rs112042881	chr1:59249572-59249573	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
24	rs4647006	chr1:59249687-59249688	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
25	rs532461468	chr1:59249718-59249719	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
26	rs565243283	chr1:59249733-59249734	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
27	rs552360249	chr1:59249747-59249748	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
28	rs530132938	chr1:59249838-59249839	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
29	rs569076178	chr1:59249853-59249854	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
30	rs532528067	chr1:59249871-59249872	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
31	rs137862293	chr1:59249879-59249880	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
32	rs554406580	chr1:59249931-59249932	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
33	rs568027984	chr1:59249935-59249936	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
34	rs4647005	chr1:59249936-59249937	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
35	rs192294851	chr1:59249937-59249938	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
36	rs573161370	chr1:59249954-59249955	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
37	rs545301878	chr1:59249955-59249956	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
38	rs4647004	chr1:59249960-59249961	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
39	rs575474603	chr1:59249990-59249991	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
40	rs149456898	chr1:59250013-59250014	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
41	rs4647003	chr1:59250016-59250017	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
42	rs4647002	chr1:59250093-59250094	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540225529	chr1:59250094-59250095	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
44	rs560492083	chr1:59250101-59250102	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
45	rs532399807	chr1:59250105-59250106	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
46	rs560000251	chr1:59250205-59250206	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs374016903	chr1:59250216-59250217	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs527549218	chr1:59250243-59250244	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 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:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59245200-59251400	Active TSS	Aorta	Aorta
2	chr1:59245600-59250600	Active TSS	HMEC	breast
3	chr1:59245600-59251000	Active TSS	HSMMtube	muscle
4	chr1:59245600-59251400	Active TSS	Psoas Muscle	Psoas
5	chr1:59246000-59251200	Active TSS	Liver	Liver
6	chr1:59246200-59251600	Active TSS	Fetal Kidney	kidney
7	chr1:59246400-59251400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:59246600-59251200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:59246600-59251200	Active TSS	A549	lung
10	chr1:59246600-59251400	Active TSS	Ovary	ovary
11	chr1:59246800-59249400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
12	chr1:59246800-59249600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:59246800-59251000	Active TSS	HSMM	muscle
14	chr1:59246800-59251200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:59246800-59251400	Active TSS	Colon Smooth Muscle	Colon
16	chr1:59246800-59252000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:59247000-59249200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:59247000-59249400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:59247000-59251200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:59247000-59251200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:59247000-59251200	Active TSS	Brain Angular Gyrus	brain
22	chr1:59247000-59251200	Active TSS	Brain Anterior Caudate	brain
23	chr1:59247000-59251200	Active TSS	Brain Hippocampus Middle	brain
24	chr1:59247000-59251200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:59247000-59251200	Active TSS	Fetal Heart	heart
26	chr1:59247000-59251200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:59247000-59251400	Active TSS	Brain Substantia Nigra	brain
28	chr1:59247200-59249200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
29	chr1:59247200-59251000	Active TSS	Fetal Lung	lung
30	chr1:59247200-59251000	Active TSS	NH-A	brain
31	chr1:59247200-59251400	Active TSS	Small Intestine	intestine
32	chr1:59247400-59249400	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
33	chr1:59247400-59249600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:59247400-59250600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:59247400-59251000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr1:59247400-59251400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:59247600-59249200	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
38	chr1:59247800-59249200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:59247800-59249400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
40	chr1:59247800-59249600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:59247800-59251200	Active TSS	Hela-S3	cervix
42	chr1:59248000-59249200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr1:59248000-59249400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:59248000-59250800	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:59248000-59251000	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr1:59248000-59251000	Active TSS	Fetal Muscle Leg	muscle
47	chr1:59248000-59251200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr1:59248000-59251200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:59248000-59251200	Active TSS	Brain Cingulate Gyrus	brain
50	chr1:59248000-59251200	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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