Variant report

Variant	nsv1061398
Chromosome Location	chr20:25370106-25444076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1664)
CpG islands
(count:1715)
Chromatin interactive
region (count:63)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:25387822-25388496	HepG2	liver:	n/a	chr20:25388309-25388317
2	ARID3A	chr20:25388096-25388261	K562	blood:	n/a	n/a
3	ARID3A	chr20:25371552-25371951	HepG2	liver:	n/a	n/a
4	ARID3A	chr20:25379777-25380076	K562	blood:	n/a	n/a
5	ARID3A	chr20:25379639-25380138	HepG2	liver:	n/a	n/a
6	ATF1	chr20:25397252-25397513	K562	blood:	n/a	n/a
7	ATF2	chr20:25388112-25388527	GM12878	blood:	n/a	n/a
8	ATF2	chr20:25371534-25371990	GM12878	blood:	n/a	n/a
9	ATF2	chr20:25387954-25388507	GM12878	blood:	n/a	n/a
10	ATF3	chr20:25388032-25388664	A549	lung:	n/a	chr20:25388194-25388203
11	ATF3	chr20:25387974-25388532	A549	lung:	n/a	chr20:25388194-25388203
12	BACH1	chr20:25371722-25371849	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr20:25370649-25370864	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr20:25387943-25388438	GM12878	blood:	n/a	chr20:25388072-25388081
15	BATF	chr20:25399506-25399665	GM12878	blood:	n/a	chr20:25399587-25399598
16	BCL3	chr20:25371548-25372060	A549	lung:	n/a	chr20:25371619-25371632
17	BCL3	chr20:25387957-25388925	A549	lung:	n/a	chr20:25388326-25388335
18	BCL3	chr20:25388706-25389225	GM12878	blood:	n/a	n/a
19	BCL3	chr20:25387945-25388694	A549	lung:	n/a	chr20:25388326-25388335
20	BCLAF1	chr20:25371157-25371962	GM12878	blood:	n/a	chr20:25371487-25371496 chr20:25371619-25371632
21	BCLAF1	chr20:25388018-25388559	GM12878	blood:	n/a	chr20:25388326-25388335
22	BHLHE40	chr20:25371233-25371293	K562	blood:	n/a	n/a
23	BHLHE40	chr20:25371263-25371994	GM12878	blood:	n/a	n/a
24	BHLHE40	chr20:25399551-25399751	GM12878	blood:	n/a	n/a
25	BHLHE40	chr20:25379784-25380071	GM12878	blood:	n/a	n/a
26	BHLHE40	chr20:25388127-25388443	K562	blood:	n/a	n/a
27	BHLHE40	chr20:25370868-25371011	GM12878	blood:	n/a	n/a
28	BHLHE40	chr20:25371542-25371911	K562	blood:	n/a	n/a
29	BRCA1	chr20:25371107-25371156	HepG2	liver:	n/a	n/a
30	BRCA1	chr20:25388053-25388627	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr20:25371613-25371893	HepG2	liver:	n/a	n/a
32	BRCA1	chr20:25388152-25388535	HepG2	liver:	n/a	n/a
33	BRCA1	chr20:25371739-25372395	H1-hESC	embryonic stem cell:	n/a	n/a
34	CBX3	chr20:25387960-25388580	K562	blood:	n/a	n/a
35	CBX3	chr20:25383211-25383531	K562	blood:	n/a	n/a
36	CBX3	chr20:25383243-25383515	K562	blood:	n/a	n/a
37	CBX3	chr20:25371526-25371822	K562	blood:	n/a	n/a
38	CCNT2	chr20:25388137-25388602	K562	blood:	n/a	n/a
39	CCNT2	chr20:25370579-25371889	K562	blood:	n/a	chr20:25371557-25371566 chr20:25371551-25371560 chr20:25370973-25370982 chr20:25370861-25370870
40	CEBPB	chr20:25403148-25403243	HepG2	liver:	n/a	chr20:25403177-25403188
41	CEBPB	chr20:25388111-25388409	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr20:25377053-25377163	HepG2	liver:	n/a	n/a
43	CEBPB	chr20:25392100-25392118	IMR90	lung:	n/a	n/a
44	CEBPB	chr20:25407604-25407908	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:25392080-25392206	A549	lung:	n/a	n/a
46	CEBPB	chr20:25371570-25371728	HepG2	liver:	n/a	n/a
47	CEBPB	chr20:25407590-25407908	A549	lung:	n/a	n/a
48	CEBPB	chr20:25403054-25403274	IMR90	lung:	n/a	chr20:25403177-25403188
49	CEBPB	chr20:25399161-25399349	MCF-7	breast:	n/a	n/a
50	CEBPB	chr20:25407589-25407872	IMR90	lung:	n/a	n/a

(count:1715 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25388089-25388139	K562	blood:	n/a
2	chr20:25388289-25388339	HL-60	blood:	n/a
3	chr20:25388289-25388339	BE2_C	brain:	n/a
4	chr20:25388369-25388419	HL-60	blood:	n/a
5	chr20:25388287-25388337	H1-hESC	embryonic stem cell:	embryo
6	chr20:25371822-25371872	RPTEC	kidney:	n/a
7	chr20:25387977-25388027	HCF	heart:	n/a
8	chr20:25388089-25388139	K562	blood:	n/a
9	chr20:25388289-25388339	HL-60	blood:	n/a
10	chr20:25388289-25388339	BE2_C	brain:	n/a
11	chr20:25388369-25388419	HL-60	blood:	n/a
12	chr20:25388287-25388337	H1-hESC	embryonic stem cell:	embryo
13	chr20:25371822-25371872	RPTEC	kidney:	n/a
14	chr20:25387977-25388027	HCF	heart:	n/a
15	chr20:25371667-25371717	PANC-1	pancreas:	n/a
16	chr20:25371852-25371902	HNPCEpiC	eye:	n/a
17	chr20:25388369-25388419	HAEpiC	amniotic membrane:	n/a
18	chr20:25388779-25388829	SKMC	muscle:	n/a
19	chr20:25371719-25371769	NH-A	brain:	n/a
20	chr20:25381464-25381514	GM12878	blood:	n/a
21	chr20:25374524-25374574	HCM	heart:	n/a
22	chr20:25371667-25371717	HPAEpiC	pulmonary alveolar:	n/a
23	chr20:25388199-25388249	HepG2	liver:	n/a
24	chr20:25433878-25433928	ovcar-3	ovarian:	n/a
25	chr20:25371439-25371489	GM19239	blood:	n/a
26	chr20:25392112-25392162	BJ	skin:	n/a
27	chr20:25371700-25371750	AG10803	skin:	n/a
28	chr20:25388287-25388337	GM12878	blood:	n/a
29	chr20:25388369-25388419	IMR90	lung:	fetal
30	chr20:25370897-25370947	HPAEpiC	pulmonary alveolar:	n/a
31	chr20:25392112-25392162	RPTEC	kidney:	n/a
32	chr20:25371408-25371458	BJ	skin:	n/a
33	chr20:25388779-25388829	MCF10A-Er-Src	breast:	n/a
34	chr20:25374524-25374574	MCF10A-Er-Src	breast:	n/a
35	chr20:25392112-25392162	AG09309	skin:	n/a
36	chr20:25381464-25381514	PrEC	prostate:	n/a
37	chr20:25388287-25388337	HEK293	kidney:	embryo
38	chr20:25371408-25371458	HL-60	blood:	n/a
39	chr20:25371665-25371715	K562	blood:	n/a
40	chr20:25388278-25388328	HCM	heart:	n/a
41	chr20:25371700-25371750	ovcar-3	ovarian:	n/a
42	chr20:25388779-25388829	U87	brain:	n/a
43	chr20:25388287-25388337	RPTEC	kidney:	n/a
44	chr20:25374524-25374574	GM12892	blood:	n/a
45	chr20:25388089-25388139	NHBE	bronchial:	n/a
46	chr20:25388641-25388691	HPAEpiC	pulmonary alveolar:	n/a
47	chr20:25388641-25388691	GM19239	blood:	n/a
48	chr20:25371665-25371715	AG04450	lung:	fetal
49	chr20:25370897-25370947	ovcar-3	ovarian:	n/a
50	chr20:25387977-25388027	HCT-116	colon:	n/a

(count:63 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:25377062..25378773-chr20:25386652..25389539,2	K562	blood:
2	chr20:25369295..25372738-chr20:25374482..25377182,6	MCF-7	breast:
3	chr20:24973500..24975861-chr20:25384259..25387078,2	MCF-7	breast:
4	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
5	chr20:25274830..25275740-chr20:25378372..25379283,2	MCF-7	breast:
6	chr13:21347533..21348089-chr20:25371504..25372138,2	NB4	blood:
7	chr20:25431598..25433481-chr20:25439717..25442541,2	MCF-7	breast:
8	chr13:21871962..21872942-chr20:25371307..25371996,2	HCT-116	colon:
9	chr20:25397786..25400078-chr20:25402229..25405600,3	MCF-7	breast:
10	chr20:25273820..25275552-chr20:25407200..25409099,2	K562	blood:
11	chr20:25277532..25280083-chr20:25374458..25376489,2	K562	blood:
12	chr20:25289881..25292169-chr20:25388744..25391503,2	MCF-7	breast:
13	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
14	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
15	chr20:25393485..25396024-chr20:25399784..25401777,2	K562	blood:
16	chr20:25316896..25317861-chr20:25379425..25380434,7	MCF-7	breast:
17	chr20:24972013..24974485-chr20:25388171..25390084,2	MCF-7	breast:
18	chr20:25401571..25403410-chr20:25403637..25405682,2	K562	blood:
19	chr20:25274540..25275681-chr20:25379513..25380502,6	MCF-7	breast:
20	chr20:25387920..25388819-chr7:6048429..6049127,2	NB4	blood:
21	chr20:25343880..25345898-chr20:25371718..25374578,2	MCF-7	breast:
22	chr20:25426609..25429585-chr20:25546782..25548440,2	MCF-7	breast:
23	chr20:25388341..25390169-chr20:25397510..25399863,2	MCF-7	breast:
24	chr20:25274373..25276866-chr20:25369511..25371754,2	K562	blood:
25	chr20:25371197..25373203-chr20:25390563..25392100,2	K562	blood:
26	chr20:25401571..25403410-chr20:25403637..25405682,2	K562	blood:
27	chr1:57110843..57111363-chr20:25371274..25371823,2	HCT-116	colon:
28	chr20:25382269..25384430-chr20:25387630..25389811,2	K562	blood:
29	chr20:25347572..25351720-chr20:25369390..25373253,5	MCF-7	breast:
30	chr20:25388255..25390330-chr20:25390563..25393927,5	MCF-7	breast:
31	chr15:49912687..49913620-chr20:25371398..25371935,2	NB4	blood:
32	chr20:25385575..25388779-chr20:25393238..25395970,3	K562	blood:
33	chr20:25324909..25327111-chr20:25375106..25376972,2	MCF-7	breast:
34	chr20:25369990..25372746-chr20:25384220..25386698,2	K562	blood:
35	chr20:25316023..25323524-chr20:25367529..25373124,12	MCF-7	breast:
36	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
37	chr20:25318544..25319155-chr20:25379499..25380008,2	MCF-7	breast:
38	chr20:25275140..25276137-chr20:25379287..25380023,3	MCF-7	breast:
39	chr20:25371197..25373195-chr20:25390563..25393020,2	K562	blood:
40	chr20:25383291..25386205-chr20:25386365..25388737,3	MCF-7	breast:
41	chr20:25397786..25400078-chr20:25402229..25405600,3	MCF-7	breast:
42	chr20:25392116..25394910-chr20:25395209..25398004,3	K562	blood:
43	chr20:25385575..25388779-chr20:25393238..25395970,3	K562	blood:
44	chr20:25431598..25433481-chr20:25439717..25442541,2	MCF-7	breast:
45	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:
46	chr20:25360614..25362965-chr20:25368758..25370561,4	K562	blood:
47	chr14:64971494..64972452-chr20:25388243..25388799,2	Hela-S3	cervix:
48	chr20:25388650..25390177-chr20:25402470..25404637,3	MCF-7	breast:
49	chr20:25175542..25177840-chr20:25370513..25373072,2	MCF-7	breast:
50	chr20:25316916..25317821-chr20:25379512..25380380,4	MCF-7	breast:

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GINS1	hsa-miR-7-5p	chr20:25428910-25428929

Variant related genes	Relation type
ABHD12	TF binding region
NINL	TF binding region
GINS1	TF binding region
ABHD12	CpG island
NINL	CpG island
GINS1	CpG island
ENSG00000075790	chromatin interactions
ENSG00000162409	chromatin interactions
ENSG00000233325	chromatin interactions
ENSG00000106305	chromatin interactions
ENSG00000227379	chromatin interactions
ENSG00000197586	chromatin interactions
ENSG00000100997	chromatin interactions
ENSG00000104047	chromatin interactions
ENSG00000150456	chromatin interactions
ENSG00000122512	chromatin interactions
ENSG00000162407	chromatin interactions
ENSG00000101474	chromatin interactions
ENSG00000213742	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000166262	chromatin interactions
ENSG00000170191	chromatin interactions
ENSG00000100994	chromatin interactions
ENSG00000101003	chromatin interactions

Extended variants
information (count: 3104 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3104 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547917601	chr20:25370107-25370108	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs193047195	chr20:25370120-25370121	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs6083829	chr20:25370185-25370186	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs564533580	chr20:25370210-25370211	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs199913693	chr20:25370219-25370220	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs533383415	chr20:25370250-25370251	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs147027128	chr20:25370270-25370271	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs184874513	chr20:25370297-25370298	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs548341703	chr20:25370310-25370311	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs549357592	chr20:25370323-25370324	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs560842088	chr20:25370330-25370331	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs6050575	chr20:25370337-25370338	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6083830	chr20:25370357-25370358	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs531390676	chr20:25370443-25370444	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs187002347	chr20:25370450-25370451	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs549520859	chr20:25370498-25370499	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs112387232	chr20:25370499-25370500	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs113140607	chr20:25370540-25370541	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs536676664	chr20:25370542-25370543	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs112984503	chr20:25370640-25370641	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs556901730	chr20:25370655-25370656	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs573894382	chr20:25370801-25370802	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs542609381	chr20:25370843-25370844	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs559129511	chr20:25370881-25370882	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs572962391	chr20:25370883-25370884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs545155326	chr20:25370902-25370903	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs564644820	chr20:25370910-25370911	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs533583816	chr20:25370915-25370916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs543719149	chr20:25370956-25370957	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs111921789	chr20:25370973-25370974	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs529606670	chr20:25370991-25370992	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs375856330	chr20:25371002-25371003	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs549350028	chr20:25371008-25371009	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs368980853	chr20:25371022-25371023	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs528542808	chr20:25371044-25371045	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs551481703	chr20:25371063-25371064	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs571074138	chr20:25371076-25371077	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs200885262	chr20:25371112-25371113	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs139848340	chr20:25371113-25371114	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs77202707	chr20:25371125-25371126	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs369626505	chr20:25371134-25371135	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs567546607	chr20:25371151-25371152	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs145380090	chr20:25371378-25371379	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs3833297	chr20:25371382-25371383	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs373200654	chr20:25371383-25371384	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs71183397	chr20:25371384-25371385	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs536190889	chr20:25371433-25371434	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs552985425	chr20:25371496-25371497	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs3827014	chr20:25371559-25371560	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs371534675	chr20:25371575-25371576	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25363200-25370400	Weak transcription	Aorta	Aorta
2	chr20:25363400-25370200	Weak transcription	Psoas Muscle	Psoas
3	chr20:25364000-25370200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr20:25364000-25370200	Weak transcription	Right Atrium	heart
5	chr20:25364200-25370200	Weak transcription	Left Ventricle	heart
6	chr20:25365600-25370200	Weak transcription	Gastric	stomach
7	chr20:25365600-25370200	Weak transcription	Lung	lung
8	chr20:25369400-25370400	Flanking Active TSS	Dnd41	blood
9	chr20:25369600-25370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:25369600-25370200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr20:25369800-25370200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
12	chr20:25369800-25370200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr20:25369800-25370200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr20:25369800-25370200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr20:25369800-25370200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr20:25369800-25370200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr20:25369800-25370200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr20:25369800-25370200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr20:25369800-25370200	Flanking Active TSS	HepG2	liver
20	chr20:25369800-25370400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr20:25369800-25370400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr20:25369800-25370400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr20:25369800-25370400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr20:25369800-25370400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:25369800-25370400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:25369800-25370400	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr20:25369800-25370400	Flanking Active TSS	A549	lung
28	chr20:25369800-25370400	Flanking Active TSS	GM12878-XiMat	blood
29	chr20:25369800-25370400	Flanking Active TSS	HMEC	breast
30	chr20:25369800-25370400	Flanking Active TSS	Osteobl	bone
31	chr20:25369800-25370800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr20:25369800-25372000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr20:25369800-25372400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:25369800-25372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:25369800-25372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr20:25369800-25372400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr20:25369800-25372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr20:25369800-25372400	Active TSS	Fetal Brain Female	brain
39	chr20:25369800-25372400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr20:25369800-25372400	Active TSS	Placenta	Placenta
41	chr20:25369800-25372400	Active TSS	NHDF-Ad	bronchial
42	chr20:25369800-25372400	Active TSS	NHLF	lung
43	chr20:25369800-25372800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr20:25370000-25370200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr20:25370000-25370200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr20:25370000-25370200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
47	chr20:25370000-25370200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr20:25370000-25370200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr20:25370000-25370200	Enhancers	Primary B cells from peripheral blood	blood
50	chr20:25370000-25370200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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