Variant report

Variant	nsv984498
Chromosome Location	chr7:5469767-5506036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1143)
CpG islands
(count:244)
Chromatin interactive
region (count:80)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1143 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:5497047-5498033	K562	blood:	n/a	n/a
2	ARID3A	chr7:5471441-5471505	K562	blood:	n/a	n/a
3	ARID3A	chr7:5480496-5480560	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:5492357-5493084	K562	blood:	n/a	n/a
5	ATF1	chr7:5497079-5498000	K562	blood:	n/a	n/a
6	ATF1	chr7:5492199-5493053	K562	blood:	n/a	n/a
7	ATF2	chr7:5475337-5475574	GM12878	blood:	n/a	n/a
8	ATF2	chr7:5492437-5493067	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:5492576-5492914	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:5475287-5475614	GM12878	blood:	n/a	n/a
11	ATF3	chr7:5497424-5497990	K562	blood:	n/a	n/a
12	ATF3	chr7:5492481-5492974	K562	blood:	n/a	chr7:5492823-5492836 chr7:5492821-5492834 chr7:5492813-5492833 chr7:5492823-5492834 chr7:5492824-5492832 chr7:5492825-5492833 chr7:5492825-5492832 chr7:5492822-5492835 chr7:5492824-5492835 chr7:5492821-5492832 chr7:5492822-5492832 chr7:5492825-5492835 chr7:5492821-5492836 chr7:5492733-5492746 chr7:5492732-5492747
13	BACH1	chr7:5492751-5492910	K562	blood:	n/a	n/a
14	BACH1	chr7:5497047-5497613	K562	blood:	n/a	n/a
15	BATF	chr7:5475276-5475627	GM12878	blood:	n/a	n/a
16	BATF	chr7:5475282-5475639	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:5475327-5475598	GM12878	blood:	n/a	n/a
18	BCL3	chr7:5497436-5498036	K562	blood:	n/a	chr7:5497794-5497801 chr7:5497694-5497703 chr7:5497668-5497677
19	BCLAF1	chr7:5497199-5497975	K562	blood:	n/a	chr7:5497794-5497801 chr7:5497694-5497703 chr7:5497668-5497677
20	BCLAF1	chr7:5497444-5498044	K562	blood:	n/a	chr7:5497794-5497801 chr7:5497694-5497703 chr7:5497668-5497677
21	BHLHE40	chr7:5475310-5475565	GM12878	blood:	n/a	n/a
22	BHLHE40	chr7:5492259-5492423	K562	blood:	n/a	n/a
23	BHLHE40	chr7:5490405-5490507	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:5467380-5470025	HepG2	liver:	n/a	chr7:5469242-5469258 chr7:5469247-5469263 chr7:5467859-5467875
25	BHLHE40	chr7:5492684-5493023	K562	blood:	n/a	n/a
26	BHLHE40	chr7:5496814-5498013	K562	blood:	n/a	n/a
27	BHLHE40	chr7:5468456-5469884	K562	blood:	n/a	chr7:5469242-5469258 chr7:5469247-5469263
28	BHLHE40	chr7:5470130-5470169	K562	blood:	n/a	n/a
29	BHLHE40	chr7:5490619-5490620	K562	blood:	n/a	n/a
30	BHLHE40	chr7:5472915-5473000	K562	blood:	n/a	n/a
31	BRCA1	chr7:5490402-5490405	GM12878	blood:	n/a	n/a
32	BRCA1	chr7:5471213-5471339	HepG2	liver:	n/a	n/a
33	BRCA1	chr7:5492703-5492908	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr7:5490374-5490538	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr7:5492078-5493123	K562	blood:	n/a	n/a
36	CBX3	chr7:5469880-5470293	K562	blood:	n/a	n/a
37	CBX3	chr7:5496752-5498553	K562	blood:	n/a	n/a
38	CBX3	chr7:5472726-5473160	K562	blood:	n/a	n/a
39	CBX3	chr7:5496897-5497358	K562	blood:	n/a	n/a
40	CBX3	chr7:5475694-5475889	K562	blood:	n/a	n/a
41	CBX3	chr7:5472814-5473217	K562	blood:	n/a	n/a
42	CBX3	chr7:5497472-5497978	K562	blood:	n/a	n/a
43	CBX3	chr7:5469961-5470257	K562	blood:	n/a	n/a
44	CCNT2	chr7:5492053-5492993	K562	blood:	n/a	n/a
45	CCNT2	chr7:5497073-5498001	K562	blood:	n/a	chr7:5497659-5497679
46	CEBPB	chr7:5499873-5500042	A549	lung:	n/a	chr7:5499949-5499962 chr7:5499950-5499961
47	CEBPB	chr7:5492596-5493047	K562	blood:	n/a	n/a
48	CEBPB	chr7:5492721-5492972	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr7:5503105-5503428	K562	blood:	n/a	n/a
50	CEBPB	chr7:5492671-5493074	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5483538-5483588	HPAEpiC	pulmonary alveolar:	n/a
2	chr7:5483538-5483588	NB4	blood:	n/a
3	chr7:5483394-5483444	HEK293	kidney:	embryo
4	chr7:5483461-5483511	HUVEC	blood vessel:	n/a
5	chr7:5483461-5483511	HCPEpiC	choroid plexus:	n/a
6	chr7:5472241-5472291	AoSMC	blood vessel:	n/a
7	chr7:5483461-5483511	AG04450	lung:	fetal
8	chr7:5483394-5483444	SK-N-SH_RA	brain:	n/a
9	chr7:5483394-5483444	AG09319	gingival:	n/a
10	chr7:5483394-5483444	GM12892	blood:	n/a
11	chr7:5483461-5483511	T-47D	breast:	n/a
12	chr7:5483394-5483444	HL-60	blood:	n/a
13	chr7:5472241-5472291	BE2_C	brain:	n/a
14	chr7:5472241-5472291	A549	lung:	n/a
15	chr7:5483538-5483588	HNPCEpiC	eye:	n/a
16	chr7:5483394-5483444	ECC-1	luminal epithelium:	n/a
17	chr7:5483461-5483511	K562	blood:	n/a
18	chr7:5472241-5472291	AG10803	skin:	n/a
19	chr7:5483461-5483511	AG10803	skin:	n/a
20	chr7:5483538-5483588	NHBE	bronchial:	n/a
21	chr7:5483461-5483511	HIPEpiC	eye:	n/a
22	chr7:5483538-5483588	HRCEpiC	kidney:	n/a
23	chr7:5483461-5483511	GM19239	blood:	n/a
24	chr7:5472241-5472291	NH-A	brain:	n/a
25	chr7:5483461-5483511	AG04449	skin:	fetal
26	chr7:5483461-5483511	HRCEpiC	kidney:	n/a
27	chr7:5483538-5483588	GM19239	blood:	n/a
28	chr7:5483394-5483444	HCM	heart:	n/a
29	chr7:5472241-5472291	AG04449	skin:	fetal
30	chr7:5472241-5472291	Caco-2	colon:	n/a
31	chr7:5483394-5483444	AG10803	skin:	n/a
32	chr7:5483461-5483511	HepG2	liver:	n/a
33	chr7:5483461-5483511	AoSMC	blood vessel:	n/a
34	chr7:5483461-5483511	H1-hESC	embryonic stem cell:	embryo
35	chr7:5472241-5472291	HRCEpiC	kidney:	n/a
36	chr7:5483538-5483588	SK-N-SH_RA	brain:	n/a
37	chr7:5472241-5472291	T-47D	breast:	n/a
38	chr7:5472241-5472291	HRPEpiC	eye:	n/a
39	chr7:5483538-5483588	Caco-2	colon:	n/a
40	chr7:5483538-5483588	H1-hESC	embryonic stem cell:	embryo
41	chr7:5483538-5483588	K562	blood:	n/a
42	chr7:5483394-5483444	GM19239	blood:	n/a
43	chr7:5483461-5483511	NB4	blood:	n/a
44	chr7:5472241-5472291	Hela-S3	cervix:	n/a
45	chr7:5483394-5483444	HCT-116	colon:	n/a
46	chr7:5472241-5472291	GM12892	blood:	n/a
47	chr7:5483461-5483511	HEK293	kidney:	embryo
48	chr7:5483394-5483444	PrEC	prostate:	n/a
49	chr7:5483461-5483511	HRE	kidney:	n/a
50	chr7:5483394-5483444	AG09309	skin:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:5478603..5481393-chr7:5483649..5485968,3	MCF-7	breast:
2	chr7:5461024..5463733-chr7:5496430..5499395,2	K562	blood:
3	chr7:5479084..5483250-chr7:5483543..5487285,4	K562	blood:
4	chr7:5335233..5337825-chr7:5495343..5497189,2	MCF-7	breast:
5	chr7:5463867..5474306-chr7:5490437..5498690,27	K562	blood:
6	chr7:5462317..5470347-chr7:5568581..5572906,13	K562	blood:
7	chr7:5408591..5410426-chr7:5492807..5494818,2	K562	blood:
8	chr7:5471770..5473767-chr7:5475636..5477605,3	K562	blood:
9	chr7:5405369..5406197-chr7:5490182..5490763,2	MCF-7	breast:
10	chr7:5490277..5492344-chr7:5497263..5499654,2	MCF-7	breast:
11	chr7:5464652..5471172-chr7:5477153..5483738,12	K562	blood:
12	chr7:5478114..5479988-chr7:5490489..5492165,2	K562	blood:
13	chr7:5471770..5473767-chr7:5475636..5477605,3	K562	blood:
14	chr7:5495111..5497335-chr7:5523375..5524918,2	K562	blood:
15	chr7:5481781..5483305-chr7:5487819..5490251,2	MCF-7	breast:
16	chr7:5472806..5475525-chr7:5495796..5497629,2	K562	blood:
17	chr7:5497570..5499939-chr7:5515945..5517500,2	MCF-7	breast:
18	chr7:5478603..5481393-chr7:5483649..5485968,3	MCF-7	breast:
19	chr7:5491173..5492771-chr7:5506151..5507933,2	MCF-7	breast:
20	chr7:5279681..5280414-chr7:5490360..5490874,2	K562	blood:
21	chr7:5496401..5498869-chr7:5515206..5517921,2	K562	blood:
22	chr12:56509416..56511778-chr7:5467782..5470383,2	MCF-7	breast:
23	chr7:5489179..5492667-chr7:5495464..5498343,3	K562	blood:
24	chr7:5441260..5444042-chr7:5497289..5499133,2	K562	blood:
25	chr7:5469953..5471687-chr7:5595348..5596965,2	MCF-7	breast:
26	chr7:5489264..5491081-chr7:5494602..5496452,2	MCF-7	breast:
27	chr7:5486211..5489791-chr7:5490283..5493222,3	K562	blood:
28	chr7:5451316..5453787-chr7:5489844..5491700,2	MCF-7	breast:
29	chr7:5472806..5475525-chr7:5495796..5497629,2	K562	blood:
30	chr7:5465615..5471247-chr7:5473726..5476687,7	K562	blood:
31	chr7:5463649..5470093-chr7:5593803..5597245,7	MCF-7	breast:
32	chr7:5492244..5495267-chr7:5630775..5633818,3	K562	blood:
33	chr7:5479996..5482782-chr7:5485785..5488364,2	K562	blood:
34	chr7:5489179..5492667-chr7:5495464..5498343,3	K562	blood:
35	chr7:5463779..5472786-chr7:5487740..5494468,14	MCF-7	breast:
36	chr7:5475507..5477040-chr7:5478529..5481426,2	K562	blood:
37	chr7:5390941..5393220-chr7:5473349..5475250,2	MCF-7	breast:
38	chr7:5466921..5470347-chr7:5568763..5571838,5	K562	blood:
39	chr7:5305199..5306831-chr7:5499242..5502194,2	K562	blood:
40	chr7:5464910..5469932-chr7:5594160..5600416,10	MCF-7	breast:
41	chr7:5479084..5483250-chr7:5483543..5487285,4	K562	blood:
42	chr7:5497148..5497715-chr7:5717347..5718069,2	MCF-7	breast:
43	chr7:5475109..5477453-chr7:5477525..5481426,4	K562	blood:
44	chr7:5498943..5500844-chr7:5509926..5511435,2	K562	blood:
45	chr7:5467671..5469912-chr7:5631901..5634167,2	MCF-7	breast:
46	chr7:5497858..5500365-chr7:5502088..5504736,2	K562	blood:
47	chr7:5489264..5491081-chr7:5494602..5496452,2	MCF-7	breast:
48	chr7:5460499..5462743-chr7:5492822..5495371,2	K562	blood:
49	chr7:5495508..5497737-chr7:5519465..5521974,2	K562	blood:
50	chr7:5486211..5489791-chr7:5490283..5493222,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL18-1	chr7:5471212-5472165	NONHSAT118917
2	lnc-SLC29A4-5	chr7:5465047-5470893	NONHSAT118916
3	lnc-FBXL18-1	chr7:5475665-5476343	NONHSAT118917

No data

Variant related genes	Relation type
TNRC18	TF binding region
ENSG00000234432	TF binding region
TNRC18	CpG island
ENSG00000234432	CpG island
ENSG00000234432	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000272953	chromatin interactions
ENSG00000272719	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000230733	chromatin interactions
ENSG00000241269	chromatin interactions
ENSG00000188365	chromatin interactions
ENSG00000273084	chromatin interactions
ENSG00000228974	chromatin interactions

Extended variants
information (count: 1934 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373098570	chr7:5469811-5469812	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
2	rs34018546	chr7:5469821-5469822	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
3	rs191901198	chr7:5469835-5469836	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
4	rs113423344	chr7:5469885-5469886	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
5	rs564117599	chr7:5469928-5469929	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs139807167	chr7:5469937-5469938	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs532159405	chr7:5469939-5469940	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs544132304	chr7:5469971-5469972	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs113094227	chr7:5469976-5469977	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs562848695	chr7:5470001-5470002	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs142084949	chr7:5470004-5470005	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs184167123	chr7:5470012-5470013	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs188518773	chr7:5470026-5470027	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs527754479	chr7:5470032-5470033	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs374097621	chr7:5470040-5470041	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs570470239	chr7:5470093-5470094	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs538239782	chr7:5470112-5470113	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs567266893	chr7:5470122-5470123	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs181000016	chr7:5470143-5470144	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs184423561	chr7:5470148-5470149	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs534684529	chr7:5470155-5470156	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs368028061	chr7:5470169-5470170	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs535657013	chr7:5470172-5470173	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs554434409	chr7:5470186-5470187	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs370201980	chr7:5470194-5470195	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs552719085	chr7:5470232-5470233	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs572700001	chr7:5470253-5470254	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs570892263	chr7:5470277-5470278	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
29	rs139096431	chr7:5470315-5470316	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
30	rs558689766	chr7:5470343-5470344	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
31	rs565571987	chr7:5470416-5470417	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs576905705	chr7:5470417-5470418	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs370166919	chr7:5470421-5470422	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs374960597	chr7:5470422-5470423	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs149816683	chr7:5470448-5470449	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs538587444	chr7:5470476-5470477	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs189311924	chr7:5470570-5470571	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs528079918	chr7:5470586-5470587	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs10252993	chr7:5470619-5470620	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34980602	chr7:5470630-5470631	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs397963731	chr7:5470648-5470649	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs62443222	chr7:5470650-5470651	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs541783102	chr7:5470663-5470664	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs559884006	chr7:5470675-5470676	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs117345894	chr7:5470678-5470679	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs376546590	chr7:5470763-5470764	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs147936627	chr7:5470820-5470821	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs368186887	chr7:5470843-5470844	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs141782774	chr7:5470874-5470875	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs112009056	chr7:5470892-5470893	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1258 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5458400-5469800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:5458600-5469800	Active TSS	Fetal Kidney	kidney
3	chr7:5458800-5469800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:5458800-5470000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:5458800-5470000	Active TSS	HSMMtube	muscle
6	chr7:5459000-5469800	Active TSS	Ovary	ovary
7	chr7:5463400-5470000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr7:5464400-5469800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:5464800-5470600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:5465000-5469800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr7:5465000-5469800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:5465200-5469800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr7:5465600-5470200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr7:5466200-5470400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr7:5466400-5469800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr7:5466600-5469800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:5466800-5469800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr7:5466800-5469800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr7:5466800-5469800	Flanking Active TSS	Placenta	Placenta
20	chr7:5466800-5469800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
21	chr7:5466800-5470000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:5466800-5470400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:5467000-5469800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:5467000-5469800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr7:5467000-5470000	Flanking Active TSS	NH-A	brain
26	chr7:5467000-5470200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr7:5467200-5469800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr7:5467600-5469800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr7:5467600-5469800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr7:5467600-5469800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr7:5467600-5470200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:5467600-5470200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:5467600-5470200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:5467600-5470400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:5467600-5470400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:5467800-5469800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr7:5467800-5469800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
38	chr7:5467800-5469800	Flanking Active TSS	Pancreas	Pancrea
39	chr7:5467800-5469800	Flanking Active TSS	Osteobl	bone
40	chr7:5467800-5470000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:5467800-5470200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:5467800-5470200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr7:5467800-5470400	Flanking Active TSS	Liver	Liver
44	chr7:5468000-5469800	Flanking Active TSS	HUVEC	blood vessel
45	chr7:5468000-5470000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:5468000-5470200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:5468000-5470200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr7:5468000-5470200	Enhancers	Spleen	Spleen
49	chr7:5468000-5470600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:5468200-5470400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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