Variant report

Variant	nsv878579
Chromosome Location	chr4:7969594-8011696
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	ATF2	chr4:7971239-7971736	GM12878	blood:	n/a	n/a
2	BATF	chr4:7971127-7971608	GM12878	blood:	n/a	n/a
3	BCL3	chr4:7978305-7978583	GM12878	blood:	n/a	n/a
4	BCLAF1	chr4:7989099-7989430	GM12878	blood:	n/a	n/a
5	BCLAF1	chr4:7971192-7971782	GM12878	blood:	n/a	n/a
6	BHLHE40	chr4:7989148-7989475	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:7998462-7998679	K562	blood:	n/a	n/a
8	BHLHE40	chr4:7971971-7972246	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:8002114-8002127	K562	blood:	n/a	n/a
10	BHLHE40	chr4:7984118-7984233	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:7989206-7989337	K562	blood:	n/a	n/a
12	BRCA1	chr4:7989156-7989495	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr4:7986007-7986207	K562	blood:	n/a	n/a
14	CEBPB	chr4:7993614-7993933	A549	lung:	n/a	chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784
15	CEBPB	chr4:7993738-7993925	Hela-S3	cervix:	n/a	chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784
16	CEBPB	chr4:7992907-7993072	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr4:7974460-7974970	MCF-7	breast:	n/a	n/a
18	CEBPB	chr4:7992877-7993185	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:7993679-7993935	HepG2	liver:	n/a	chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784
20	CEBPB	chr4:7979861-7980394	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr4:7993645-7993940	IMR90	lung:	n/a	chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784
22	CEBPB	chr4:7971142-7972069	IMR90	lung:	n/a	n/a
23	CEBPB	chr4:7990270-7990525	A549	lung:	n/a	n/a
24	CEBPB	chr4:7974330-7975018	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr4:7993736-7993804	K562	blood:	n/a	chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784 chr4:7993775-7993784
26	CEBPB	chr4:7992893-7993178	IMR90	lung:	n/a	n/a
27	CEBPB	chr4:7990214-7990618	IMR90	lung:	n/a	n/a
28	CEBPB	chr4:7979562-7980122	IMR90	lung:	n/a	n/a
29	CEBPD	chr4:7971815-7972127	HepG2	liver:	n/a	n/a
30	CHD2	chr4:7971856-7972078	GM12878	blood:	n/a	n/a
31	CHD2	chr4:7978713-7978900	K562	blood:	n/a	n/a
32	CHD2	chr4:7981471-7981641	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr4:7971826-7972109	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr4:7989192-7989398	SK-N-SH_RA	brain:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
35	CTCF	chr4:7989173-7989436	Hela-S3	cervix:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
36	CTCF	chr4:7971983-7972073	NHEK	skin:	n/a	n/a
37	CTCF	chr4:7989182-7989441	ProgFib	skin:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
38	CTCF	chr4:7989550-7989670	GM19239	blood:	n/a	n/a
39	CTCF	chr4:7989260-7989410	HFF-Myc	foreskin:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
40	CTCF	chr4:7989180-7989330	GM12878	blood:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
41	CTCF	chr4:7986880-7987030	BJ	skin:	n/a	n/a
42	CTCF	chr4:7971900-7972050	GM12873	blood:	n/a	n/a
43	CTCF	chr4:7989260-7989410	NB4	blood:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
44	CTCF	chr4:7971980-7972130	SAEC	small airway:	n/a	n/a
45	CTCF	chr4:7989110-7989521	K562	blood:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
46	CTCF	chr4:7989107-7989588	MCF-7	breast:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
47	CTCF	chr4:7989220-7989370	HVMF	connective:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
48	CTCF	chr4:7989240-7989390	GM12868	blood:	n/a	chr4:7989296-7989309 chr4:7989289-7989310 chr4:7989294-7989312
49	CTCF	chr4:7971923-7972156	GM12891	blood:	n/a	n/a
50	CTCF	chr4:7989668-7989671	GM10248	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8007156-8007206	SKMC	muscle:	n/a
2	chr4:7985912-7985962	LNCaP	prostate:	n/a
3	chr4:7987530-7987580	AG04450	lung:	fetal
4	chr4:7985238-7985288	HCM	heart:	n/a
5	chr4:8007156-8007206	ovcar-3	ovarian:	n/a
6	chr4:7973701-7973751	PrEC	prostate:	n/a
7	chr4:7980661-7980711	PFSK-1	brain:	n/a
8	chr4:7985238-7985288	PFSK-1	brain:	n/a
9	chr4:8007138-8007188	H1-hESC	embryonic stem cell:	embryo
10	chr4:7987834-7987884	SK-N-MC	brain:	n/a
11	chr4:7973701-7973751	BJ	skin:	n/a
12	chr4:7987834-7987884	MCF10A-Er-Src	breast:	n/a
13	chr4:7985912-7985962	AG09319	gingival:	n/a
14	chr4:8006893-8006943	HNPCEpiC	eye:	n/a
15	chr4:7980661-7980711	NH-A	brain:	n/a
16	chr4:7980661-7980711	NB4	blood:	n/a
17	chr4:8009639-8009689	HRCEpiC	kidney:	n/a
18	chr4:8009639-8009689	LNCaP	prostate:	n/a
19	chr4:8007156-8007206	AG09309	skin:	n/a
20	chr4:7986477-7986527	HCT-116	colon:	n/a
21	chr4:7985912-7985962	AG10803	skin:	n/a
22	chr4:8007156-8007206	GM12891	blood:	n/a
23	chr4:7987834-7987884	HPAEpiC	pulmonary alveolar:	n/a
24	chr4:8006893-8006943	SK-N-MC	brain:	n/a
25	chr4:8006893-8006943	IMR90	lung:	fetal
26	chr4:7987330-7987380	CMK	blood:	n/a
27	chr4:7987330-7987380	SKMC	muscle:	n/a
28	chr4:8007156-8007206	HRE	kidney:	n/a
29	chr4:7973701-7973751	GM19239	blood:	n/a
30	chr4:7987530-7987580	NHBE	bronchial:	n/a
31	chr4:7986477-7986527	PANC-1	pancreas:	n/a
32	chr4:8007156-8007206	SK-N-SH_RA	brain:	n/a
33	chr4:8007014-8007064	MCF10A-Er-Src	breast:	n/a
34	chr4:7973701-7973751	AG09319	gingival:	n/a
35	chr4:8007138-8007188	PANC-1	pancreas:	n/a
36	chr4:7985912-7985962	HUVEC	blood vessel:	n/a
37	chr4:8007156-8007206	T-47D	breast:	n/a
38	chr4:7987330-7987380	NB4	blood:	n/a
39	chr4:7987834-7987884	HRPEpiC	eye:	n/a
40	chr4:8009639-8009689	ovcar-3	ovarian:	n/a
41	chr4:8007156-8007206	AG09319	gingival:	n/a
42	chr4:7986251-7986301	Hela-S3	cervix:	n/a
43	chr4:7986477-7986527	HRE	kidney:	n/a
44	chr4:8007156-8007206	HEEpiC	esophagus:	n/a
45	chr4:8007014-8007064	HRCEpiC	kidney:	n/a
46	chr4:7980661-7980711	AG04450	lung:	fetal
47	chr4:8007156-8007206	SAEC	small airway:	n/a
48	chr4:7987530-7987580	GM12892	blood:	n/a
49	chr4:7973701-7973751	AG04449	skin:	fetal
50	chr4:7985149-7985199	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7982215..7985170-chr4:7985495..7987162,2	MCF-7	breast:
2	chr4:7805030..7805958-chr4:7990369..7990911,2	K562	blood:
3	chr4:7940916..7942469-chr4:7977876..7979567,2	MCF-7	breast:
4	chr4:7968293..7969808-chr4:7972289..7974865,2	MCF-7	breast:
5	chr4:7807434..7808952-chr4:8000439..8002438,2	MCF-7	breast:
6	chr4:7972328..7974698-chr4:7988025..7989740,2	MCF-7	breast:
7	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
8	chr4:7974598..7977296-chr4:7995967..7999387,3	MCF-7	breast:
9	chr4:8000666..8003023-chr4:8003232..8007313,4	MCF-7	breast:
10	chr20:52208463..52210138-chr4:7967818..7969882,2	MCF-7	breast:
11	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
12	chr4:7974598..7977296-chr4:7995967..7999387,3	MCF-7	breast:
13	chr4:7973238..7976056-chr4:7980066..7981632,2	MCF-7	breast:
14	chr4:7805419..7806405-chr4:7988814..7989339,2	K562	blood:
15	chr4:7943913..7945893-chr4:7981237..7983380,2	MCF-7	breast:
16	chr4:8005982..8008973-chr4:8021942..8023511,2	MCF-7	breast:
17	chr4:7968293..7969808-chr4:7972289..7974865,2	MCF-7	breast:
18	chr4:7193837..7194668-chr4:7988783..7989705,2	K562	blood:
19	chr4:8008264..8010463-chr4:8011198..8013869,4	MCF-7	breast:
20	chr4:7972595..7975049-chr4:7979721..7982181,5	MCF-7	breast:
21	chr20:30192785..30193307-chr4:7971401..7972325,2	Hela-S3	cervix:
22	chr4:7940228..7942732-chr4:7972694..7975678,3	MCF-7	breast:
23	chr4:7943385..7945490-chr4:7973996..7976275,2	MCF-7	breast:
24	chr4:7771826..7772718-chr4:7988877..7990121,4	MCF-7	breast:
25	chr4:7938506..7945813-chr4:7968503..7977501,21	MCF-7	breast:
26	chr4:7723652..7724312-chr4:7988958..7989693,2	MCF-7	breast:
27	chr4:7804324..7807098-chr4:7992889..7994621,2	MCF-7	breast:
28	chr4:7993971..7996546-chr4:8010581..8013516,2	MCF-7	breast:
29	chr4:7768557..7769357-chr4:7988855..7989724,2	MCF-7	breast:
30	chr4:7941236..7944392-chr4:7970174..7972613,4	MCF-7	breast:
31	chr4:7978137..7980891-chr4:8001316..8003240,2	MCF-7	breast:
32	chr4:7978137..7980891-chr4:8001316..8003240,2	MCF-7	breast:
33	chr4:7966853..7969531-chr4:7971692..7973616,2	MCF-7	breast:
34	chr4:7965044..7967214-chr4:7970387..7972613,2	MCF-7	breast:
35	chr4:7805561..7806399-chr4:7988705..7989541,5	MCF-7	breast:
36	chr4:7972328..7974698-chr4:7988025..7989740,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-95-5p	chr4:8007074-8007094	MIMAT0026473
hsa-miR-95-3p	chr4:8007039-8007060	MIMAT0000094

Variant related genes	Relation type
ABLIM2	TF binding region
MIR95	TF binding region
ABLIM2	CpG island
MIR95	CpG island
ENSG00000184985	chromatin interactions
ENSG00000207807	chromatin interactions
ENSG00000196526	chromatin interactions
ENSG00000163995	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000228919	chromatin interactions
SNX1	Mature miRNA region

Extended variants
information (count: 2044 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2044 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10008860	chr4:7969594-7969595	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541623587	chr4:7969604-7969605	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs191618159	chr4:7969609-7969610	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148694201	chr4:7969611-7969612	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373146594	chr4:7969615-7969616	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542335338	chr4:7969643-7969644	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560583354	chr4:7969673-7969674	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544768321	chr4:7969687-7969688	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531221827	chr4:7969709-7969710	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184565996	chr4:7969712-7969713	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564836565	chr4:7969726-7969727	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188930558	chr4:7969728-7969729	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532566587	chr4:7969756-7969757	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181986954	chr4:7969757-7969758	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547609340	chr4:7969758-7969759	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565716873	chr4:7969779-7969780	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187106639	chr4:7969780-7969781	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs372729825	chr4:7969781-7969782	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565393095	chr4:7969783-7969784	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570139185	chr4:7969869-7969870	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs189620216	chr4:7969894-7969895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs558952186	chr4:7969905-7969906	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571203819	chr4:7969924-7969925	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75477549	chr4:7969944-7969945	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77399379	chr4:7969965-7969966	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553558001	chr4:7969981-7969982	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73090365	chr4:7970012-7970013	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542373998	chr4:7970037-7970038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13126996	chr4:7970068-7970069	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568113920	chr4:7970089-7970090	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554265866	chr4:7970090-7970091	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375082330	chr4:7970094-7970095	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9799872	chr4:7970103-7970104	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs151195679	chr4:7970165-7970166	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564526904	chr4:7970177-7970178	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28737351	chr4:7970197-7970198	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540954057	chr4:7970216-7970217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559564516	chr4:7970245-7970246	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs529870194	chr4:7970247-7970248	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548358511	chr4:7970269-7970270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs62290613	chr4:7970280-7970281	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531019866	chr4:7970321-7970322	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569526046	chr4:7970329-7970330	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142386718	chr4:7970330-7970331	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs566995718	chr4:7970347-7970348	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144762438	chr4:7970364-7970365	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147875848	chr4:7970383-7970384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574816585	chr4:7970389-7970390	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs180845188	chr4:7970392-7970393	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199774115	chr4:7970512-7970513	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:1147 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7959400-7971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:7963000-7971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:7963200-7969800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:7963200-7971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:7963200-7971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:7963400-7975400	Weak transcription	Aorta	Aorta
7	chr4:7964400-7971600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr4:7964800-7971000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:7965400-7969600	Weak transcription	GM12878-XiMat	blood
10	chr4:7965600-7971200	Weak transcription	Brain Anterior Caudate	brain
11	chr4:7965800-7969600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7966000-7971600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:7966400-7970400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
14	chr4:7967000-7969600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7967000-7969600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:7967000-7987600	Weak transcription	Psoas Muscle	Psoas
17	chr4:7967200-7969800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:7967200-7969800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:7967200-7971000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:7967200-7971000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:7967400-7969600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr4:7967400-7970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:7967600-7969600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:7967600-7969800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:7967800-7969600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:7967800-7969600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:7967800-7969600	Weak transcription	Esophagus	oesophagus
28	chr4:7967800-7969600	Weak transcription	NHEK	skin
29	chr4:7967800-7969800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:7967800-7969800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr4:7967800-7970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:7967800-7970600	Enhancers	A549	lung
33	chr4:7967800-7971000	Weak transcription	Fetal Lung	lung
34	chr4:7968000-7970000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:7968000-7971000	Weak transcription	Fetal Heart	heart
36	chr4:7968200-7969600	Enhancers	Pancreas	Pancrea
37	chr4:7968200-7972000	Enhancers	Fetal Intestine Large	intestine
38	chr4:7968600-7970600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:7968600-7972000	Enhancers	Spleen	Spleen
40	chr4:7968800-7969600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:7968800-7969600	Flanking Active TSS	HepG2	liver
42	chr4:7968800-7969800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:7968800-7970200	Enhancers	Brain Angular Gyrus	brain
44	chr4:7968800-7970200	Enhancers	Brain Substantia Nigra	brain
45	chr4:7968800-7970400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:7968800-7970400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:7968800-7970600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:7968800-7970600	Enhancers	Brain Cingulate Gyrus	brain
49	chr4:7969000-7969800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr4:7969000-7970200	Enhancers	Colonic Mucosa	Colon

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