Variant report

Variant	esv3374710
Chromosome Location	chr7:150944544-150947592
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	ATF3	chr7:150944971-150945186	K562	blood:	n/a	n/a
2	BACH1	chr7:150946355-150946673	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:150945774-150945927	K562	blood:	n/a	n/a
4	CCNT2	chr7:150945698-150946465	K562	blood:	n/a	n/a
5	CEBPD	chr7:150945690-150945940	HepG2	liver:	n/a	n/a
6	CHD1	chr7:150946135-150946268	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:150945624-150945797	K562	blood:	n/a	n/a
8	CHD2	chr7:150945602-150945965	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr7:150945298-150946184	A549	lung:	n/a	n/a
10	CTBP2	chr7:150945773-150946525	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:150945600-150945750	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr7:150945600-150945750	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr7:150945380-150945530	GM12871	blood:	n/a	chr7:150945463-150945471
14	CTCF	chr7:150945360-150945510	HUVEC	blood vessel:	n/a	chr7:150945463-150945471
15	CTCF	chr7:150945400-150945550	SK-N-SH_RA	brain:	n/a	chr7:150945463-150945471
16	CTCF	chr7:150945380-150945530	HEK293	kidney:	n/a	chr7:150945463-150945471
17	CTCF	chr7:150945580-150945730	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr7:150945520-150945670	BJ	skin:	n/a	n/a
19	CTCF	chr7:150946160-150946310	AG04449	skin:	n/a	chr7:150946198-150946211
20	CTCF	chr7:150945400-150945550	HCM	heart:	n/a	chr7:150945463-150945471
21	CTCF	chr7:150945300-150945450	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr7:150945380-150945530	AG04449	skin:	n/a	chr7:150945463-150945471
23	CTCF	chr7:150945000-150945150	HBMEC	blood vessel:	n/a	n/a
24	E2F4	chr7:150946376-150946593	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F6	chr7:150945994-150946648	A549	lung:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
26	E2F6	chr7:150945902-150946501	A549	lung:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
27	E2F6	chr7:150945290-150945475	K562	blood:	n/a	n/a
28	E2F6	chr7:150945824-150946477	K562	blood:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
29	E2F6	chr7:150945674-150946576	K562	blood:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
30	E2F6	chr7:150944714-150945232	K562	blood:	n/a	n/a
31	E2F6	chr7:150945727-150946557	K562	blood:	n/a	chr7:150946091-150946100 chr7:150946063-150946072
32	EGR1	chr7:150945205-150945674	K562	blood:	n/a	chr7:150945209-150945222 chr7:150945321-150945334 chr7:150945322-150945331
33	EGR1	chr7:150945138-150945389	K562	blood:	n/a	chr7:150945209-150945222 chr7:150945321-150945334 chr7:150945322-150945331
34	EGR1	chr7:150945414-150946047	K562	blood:	n/a	n/a
35	ELF1	chr7:150946406-150946739	K562	blood:	n/a	chr7:150946636-150946647
36	ELF1	chr7:150945723-150946131	K562	blood:	n/a	chr7:150946104-150946116
37	ELF1	chr7:150945715-150946057	K562	blood:	n/a	n/a
38	ELK1	chr7:150946140-150946231	Hela-S3	cervix:	n/a	n/a
39	EP300	chr7:150945430-150946830	ECC-1	luminal epithelium:	n/a	chr7:150946151-150946160 chr7:150946637-150946651 chr7:150946668-150946684
40	EP300	chr7:150945901-150945988	K562	blood:	n/a	n/a
41	EP300	chr7:150945205-150946525	SK-N-SH	brain:	n/a	chr7:150946151-150946160
42	EP300	chr7:150945993-150946106	HepG2	liver:	n/a	n/a
43	ETS1	chr7:150945805-150946116	K562	blood:	n/a	chr7:150946055-150946066 chr7:150946089-150946100
44	FOXA1	chr7:150945683-150946201	HepG2	liver:	n/a	n/a
45	FOXA1	chr7:150945819-150946137	HepG2	liver:	n/a	n/a
46	FOXA1	chr7:150945709-150946094	HepG2	liver:	n/a	n/a
47	FOXA2	chr7:150945783-150946018	HepG2	liver:	n/a	n/a
48	GABPA	chr7:150946233-150946594	K562	blood:	n/a	n/a
49	GATA1	chr7:150945713-150946066	PBDE	blood:	n/a	chr7:150945877-150945893 chr7:150945976-150945985 chr7:150945976-150945986
50	GATA1	chr7:150945779-150946089	K562	blood:	n/a	chr7:150945877-150945893 chr7:150945976-150945985 chr7:150945976-150945986

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150945869-150945919	PrEC	prostate:	n/a
2	chr7:150946114-150946164	HNPCEpiC	eye:	n/a
3	chr7:150946998-150947048	NB4	blood:	n/a
4	chr7:150946114-150946164	BJ	skin:	n/a
5	chr7:150945928-150945978	RPTEC	kidney:	n/a
6	chr7:150945928-150945978	U87	brain:	n/a
7	chr7:150946114-150946164	HEK293	kidney:	embryo
8	chr7:150945869-150945919	GM06990	blood:	n/a
9	chr7:150946998-150947048	HEEpiC	esophagus:	n/a
10	chr7:150946114-150946164	HUVEC	blood vessel:	n/a
11	chr7:150945928-150945978	HCPEpiC	choroid plexus:	n/a
12	chr7:150945607-150945657	HRCEpiC	kidney:	n/a
13	chr7:150945607-150945657	HCPEpiC	choroid plexus:	n/a
14	chr7:150945928-150945978	NHBE	bronchial:	n/a
15	chr7:150945937-150945987	AG10803	skin:	n/a
16	chr7:150945607-150945657	SKMC	muscle:	n/a
17	chr7:150946998-150947048	MCF-7	breast:	n/a
18	chr7:150945928-150945978	HRCEpiC	kidney:	n/a
19	chr7:150945607-150945657	Jurkat	blood:	n/a
20	chr7:150945937-150945987	IMR90	lung:	fetal
21	chr7:150945869-150945919	HCF	heart:	n/a
22	chr7:150946114-150946164	HEEpiC	esophagus:	n/a
23	chr7:150946114-150946164	HL-60	blood:	n/a
24	chr7:150945928-150945978	T-47D	breast:	n/a
25	chr7:150945869-150945919	MCF10A-Er-Src	breast:	n/a
26	chr7:150945928-150945978	MCF-7	breast:	n/a
27	chr7:150945928-150945978	Caco-2	colon:	n/a
28	chr7:150945928-150945978	SAEC	small airway:	n/a
29	chr7:150946114-150946164	H1-hESC	embryonic stem cell:	embryo
30	chr7:150946114-150946164	HMEC	breast:	n/a
31	chr7:150946114-150946164	AG04449	skin:	fetal
32	chr7:150945928-150945978	HNPCEpiC	eye:	n/a
33	chr7:150946199-150946249	K562	blood:	n/a
34	chr7:150946199-150946249	MCF-7	breast:	n/a
35	chr7:150945869-150945919	HCM	heart:	n/a
36	chr7:150945937-150945987	Hepatocyte	liver:	n/a
37	chr7:150945607-150945657	U87	brain:	n/a
38	chr7:150946199-150946249	BE2_C	brain:	n/a
39	chr7:150945869-150945919	NT2-D1	testis:	n/a
40	chr7:150945607-150945657	Hela-S3	cervix:	n/a
41	chr7:150946199-150946249	HCF	heart:	n/a
42	chr7:150946998-150947048	HepG2	liver:	n/a
43	chr7:150945928-150945978	Hepatocyte	liver:	n/a
44	chr7:150946998-150947048	GM06990	blood:	n/a
45	chr7:150946199-150946249	Caco-2	colon:	n/a
46	chr7:150945869-150945919	NHBE	bronchial:	n/a
47	chr7:150945928-150945978	HEEpiC	esophagus:	n/a
48	chr7:150946114-150946164	HepG2	liver:	n/a
49	chr7:150945607-150945657	HCT-116	colon:	n/a
50	chr7:150945928-150945978	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
2	chr7:150938276..150940538-chr7:150946762..150948405,2	MCF-7	breast:
3	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:
4	chr7:150928143..150930111-chr7:150944656..150946614,2	MCF-7	breast:
5	chr7:150941406..150944514-chr7:150945051..150947075,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHPF2-1	chr7:150946411-150946548	ENSG00000243018.1

Variant related genes	Relation type
ENSG00000243018	TF binding region
SMARCD3	TF binding region
ENSG00000243018	CpG island
SMARCD3	CpG island
ENSG00000082014	chromatin interactions
ENSG00000033100	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2487152	chr7:150944654-150944655	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75837759	chr7:150944656-150944657	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs540539864	chr7:150944670-150944671	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs560083819	chr7:150944720-150944721	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs3838329	chr7:150944797-150944798	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs576808970	chr7:150944800-150944801	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs545859587	chr7:150944839-150944840	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs374274518	chr7:150944920-150944921	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs79767847	chr7:150944932-150944933	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs188486236	chr7:150944973-150944974	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs552307162	chr7:150944992-150944993	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs181297166	chr7:150945002-150945003	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs544803837	chr7:150945060-150945061	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs373962207	chr7:150945088-150945089	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561149565	chr7:150945294-150945295	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs530291513	chr7:150945296-150945297	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs547020666	chr7:150945331-150945332	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs566857923	chr7:150945333-150945334	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs184332569	chr7:150945375-150945376	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs219234	chr7:150945434-150945435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552628103	chr7:150945452-150945453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs538581536	chr7:150945458-150945459	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs138937036	chr7:150945466-150945467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs570418758	chr7:150945472-150945473	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs376386922	chr7:150945522-150945523	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs554761835	chr7:150945550-150945551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs549849125	chr7:150945560-150945561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs375617256	chr7:150945561-150945562	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs574725489	chr7:150945721-150945722	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs534075489	chr7:150945771-150945772	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs372187774	chr7:150945788-150945789	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs553808128	chr7:150945831-150945832	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs563262664	chr7:150945840-150945841	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs576756405	chr7:150945864-150945865	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs545447522	chr7:150945929-150945930	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs562525118	chr7:150945962-150945963	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs113905981	chr7:150946022-150946023	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs141974963	chr7:150946030-150946031	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs542214427	chr7:150946071-150946072	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs368982530	chr7:150946128-150946129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs561139047	chr7:150946130-150946131	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs190407201	chr7:150946224-150946225	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs71539873	chr7:150946254-150946255	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs113609112	chr7:150946303-150946304	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs560658387	chr7:150946358-150946359	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs532859382	chr7:150946368-150946369	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs12216605	chr7:150946390-150946391	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569280678	chr7:150946403-150946404	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538330338	chr7:150946409-150946410	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs548745454	chr7:150946427-150946428	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
2	chr7:150940200-150944800	Enhancers	Pancreas	Pancrea
3	chr7:150940200-150945400	Enhancers	K562	blood
4	chr7:150940800-150944800	Bivalent Enhancer	Placenta	Placenta
5	chr7:150941200-150944800	Enhancers	NHDF-Ad	bronchial
6	chr7:150941600-150945600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr7:150941800-150945600	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr7:150942000-150944800	Enhancers	Esophagus	oesophagus
9	chr7:150942000-150945200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:150942000-150945600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:150942200-150945000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:150942200-150945000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:150942400-150944800	Enhancers	Fetal Brain Male	brain
14	chr7:150942600-150944600	Enhancers	Brain Angular Gyrus	brain
15	chr7:150942800-150944600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
16	chr7:150942800-150945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:150942800-150945200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr7:150942800-150945400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr7:150943000-150944800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:150943000-150944800	Enhancers	Brain Anterior Caudate	brain
21	chr7:150943000-150944800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:150943000-150945000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:150943000-150945000	Enhancers	Spleen	Spleen
24	chr7:150943000-150945200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:150943000-150945400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr7:150943200-150944600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:150943200-150944600	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr7:150943200-150944600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr7:150943200-150944600	Enhancers	A549	lung
30	chr7:150943200-150944800	Weak transcription	HUVEC	blood vessel
31	chr7:150943200-150945000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:150943200-150945200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr7:150943200-150945400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
34	chr7:150943200-150945400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:150943400-150944800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:150943400-150944800	Enhancers	Gastric	stomach
37	chr7:150943400-150945000	Flanking Active TSS	HSMMtube	muscle
38	chr7:150943400-150945200	Flanking Active TSS	Fetal Brain Female	brain
39	chr7:150943400-150945600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:150943600-150944600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr7:150943600-150945200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:150943800-150944600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:150943800-150944600	Flanking Active TSS	NHLF	lung
44	chr7:150943800-150944800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:150943800-150944800	Enhancers	Brain Substantia Nigra	brain
46	chr7:150943800-150944800	Flanking Active TSS	Fetal Heart	heart
47	chr7:150943800-150944800	Flanking Active TSS	Fetal Lung	lung
48	chr7:150943800-150944800	Enhancers	Lung	lung
49	chr7:150943800-150945200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:150943800-150945200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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