Variant report

Variant	nsv593627
Chromosome Location	chr4:8202211-8311043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3448)
CpG islands
(count:4458)
Chromatin interactive
region (count:130)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3448 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:8268932-8269253	K562	blood:	n/a	n/a
2	ARID3A	chr4:8305135-8305823	K562	blood:	n/a	n/a
3	ARID3A	chr4:8202213-8202581	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:8305348-8305642	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:8244929-8245080	K562	blood:	n/a	n/a
6	ARID3A	chr4:8227773-8228124	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:8240304-8240605	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:8244040-8244260	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:8254490-8254732	K562	blood:	n/a	n/a
10	ATF1	chr4:8254361-8254786	K562	blood:	n/a	n/a
11	ATF1	chr4:8305288-8305697	K562	blood:	n/a	n/a
12	ATF1	chr4:8220182-8220394	K562	blood:	n/a	n/a
13	ATF1	chr4:8202225-8202706	K562	blood:	n/a	n/a
14	ATF1	chr4:8223428-8223513	K562	blood:	n/a	n/a
15	ATF2	chr4:8203157-8203703	GM12878	blood:	n/a	n/a
16	ATF2	chr4:8203146-8203570	GM12878	blood:	n/a	n/a
17	ATF2	chr4:8230182-8231087	GM12878	blood:	n/a	n/a
18	ATF2	chr4:8243931-8244274	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr4:8243931-8244299	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr4:8230227-8230995	GM12878	blood:	n/a	n/a
21	ATF3	chr4:8305246-8305673	K562	blood:	n/a	n/a
22	ATF3	chr4:8202500-8202669	K562	blood:	n/a	n/a
23	ATF3	chr4:8243980-8244184	K562	blood:	n/a	chr4:8244062-8244071 chr4:8244108-8244116
24	BACH1	chr4:8230123-8230900	H1-hESC	embryonic stem cell:	n/a	chr4:8230476-8230490
25	BACH1	chr4:8305142-8305898	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr4:8304810-8304892	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr4:8307134-8307192	K562	blood:	n/a	n/a
28	BACH1	chr4:8244170-8244172	K562	blood:	n/a	n/a
29	BACH1	chr4:8227896-8228237	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:8244014-8244385	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr4:8254579-8254646	K562	blood:	n/a	n/a
32	BACH1	chr4:8230293-8230668	K562	blood:	n/a	chr4:8230476-8230490
33	BACH1	chr4:8300502-8300525	K562	blood:	n/a	n/a
34	BACH1	chr4:8304571-8306375	K562	blood:	n/a	n/a
35	BATF	chr4:8223277-8223584	GM12878	blood:	n/a	n/a
36	BATF	chr4:8230352-8230584	GM12878	blood:	n/a	chr4:8230476-8230486
37	BATF	chr4:8223336-8223630	GM12878	blood:	n/a	n/a
38	BATF	chr4:8230281-8230848	GM12878	blood:	n/a	chr4:8230476-8230486
39	BCL11A	chr4:8203102-8203453	GM12878	blood:	n/a	chr4:8203444-8203453
40	BCL11A	chr4:8203313-8203587	GM12878	blood:	n/a	chr4:8203444-8203453
41	BCL11A	chr4:8230278-8230620	GM12878	blood:	n/a	n/a
42	BCL11A	chr4:8230171-8231050	GM12878	blood:	n/a	n/a
43	BCL3	chr4:8230261-8231421	GM12878	blood:	n/a	n/a
44	BCL3	chr4:8305176-8305795	A549	lung:	n/a	n/a
45	BCL3	chr4:8305288-8305655	GM12878	blood:	n/a	n/a
46	BCL3	chr4:8305344-8305701	GM12878	blood:	n/a	n/a
47	BCLAF1	chr4:8230183-8231019	GM12878	blood:	n/a	n/a
48	BCLAF1	chr4:8203140-8203628	GM12878	blood:	n/a	chr4:8203444-8203453
49	BHLHE40	chr4:8228103-8228124	HepG2	liver:	n/a	n/a
50	BHLHE40	chr4:8305090-8305693	K562	blood:	n/a	n/a

(count:4458 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8202280-8202330	HCT-116	colon:	n/a
2	chr4:8271319-8271369	AG09309	skin:	n/a
3	chr4:8299814-8299864	AG04450	lung:	fetal
4	chr4:8202531-8202581	HRPEpiC	eye:	n/a
5	chr4:8242745-8242795	AG04450	lung:	fetal
6	chr4:8202280-8202330	HCT-116	colon:	n/a
7	chr4:8271319-8271369	AG09309	skin:	n/a
8	chr4:8299814-8299864	AG04450	lung:	fetal
9	chr4:8202531-8202581	HRPEpiC	eye:	n/a
10	chr4:8242745-8242795	AG04450	lung:	fetal
11	chr4:8230847-8230897	HRE	kidney:	n/a
12	chr4:8230847-8230897	Hela-S3	cervix:	n/a
13	chr4:8271236-8271286	PrEC	prostate:	n/a
14	chr4:8271236-8271286	HRCEpiC	kidney:	n/a
15	chr4:8207250-8207300	HCM	heart:	n/a
16	chr4:8239220-8239270	HIPEpiC	eye:	n/a
17	chr4:8207058-8207108	SK-N-SH_RA	brain:	n/a
18	chr4:8248465-8248515	PrEC	prostate:	n/a
19	chr4:8292261-8292311	HIPEpiC	eye:	n/a
20	chr4:8248320-8248370	NT2-D1	testis:	n/a
21	chr4:8253470-8253520	PFSK-1	brain:	n/a
22	chr4:8271792-8271842	U87	brain:	n/a
23	chr4:8207250-8207300	BJ	skin:	n/a
24	chr4:8270795-8270845	HL-60	blood:	n/a
25	chr4:8249430-8249480	PrEC	prostate:	n/a
26	chr4:8271792-8271842	AG10803	skin:	n/a
27	chr4:8307757-8307807	HRCEpiC	kidney:	n/a
28	chr4:8207058-8207108	Hepatocyte	liver:	n/a
29	chr4:8307888-8307938	Hela-S3	cervix:	n/a
30	chr4:8310999-8311049	AG09319	gingival:	n/a
31	chr4:8206575-8206625	IMR90	lung:	fetal
32	chr4:8221101-8221151	HRPEpiC	eye:	n/a
33	chr4:8229159-8229209	K562	blood:	n/a
34	chr4:8271196-8271246	Jurkat	blood:	n/a
35	chr4:8207119-8207169	PANC-1	pancreas:	n/a
36	chr4:8275039-8275089	HUVEC	blood vessel:	n/a
37	chr4:8253470-8253520	K562	blood:	n/a
38	chr4:8253322-8253372	SK-N-MC	brain:	n/a
39	chr4:8239254-8239304	HRE	kidney:	n/a
40	chr4:8310999-8311049	GM12878	blood:	n/a
41	chr4:8253707-8253757	Caco-2	colon:	n/a
42	chr4:8308672-8308722	GM06990	blood:	n/a
43	chr4:8277560-8277610	NHDF-neo	bronchial:	n/a
44	chr4:8248912-8248962	SK-N-MC	brain:	n/a
45	chr4:8268962-8269012	HAEpiC	amniotic membrane:	n/a
46	chr4:8277560-8277610	AG09309	skin:	n/a
47	chr4:8230053-8230103	HEK293	kidney:	embryo
48	chr4:8270184-8270234	A549	lung:	n/a
49	chr4:8248877-8248927	HCT-116	colon:	n/a
50	chr4:8262942-8262992	HIPEpiC	eye:	n/a

(count:130 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:8268620..8269557-chr4:8404343..8405485,5	K562	blood:
2	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
3	chr4:8276758..8278622-chr4:8279545..8282150,2	MCF-7	breast:
4	chr4:8236579..8238924-chr4:8243496..8245332,2	K562	blood:
5	chr4:8209569..8211422-chr4:8212311..8214321,2	K562	blood:
6	chr4:8292974..8294945-chr4:8297191..8300156,2	MCF-7	breast:
7	chr4:8178239..8179222-chr4:8243368..8244103,2	K562	blood:
8	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:
9	chr4:8178683..8179355-chr4:8239861..8240827,2	K562	blood:
10	chr4:8252940..8255402-chr4:8411571..8414054,2	K562	blood:
11	chr4:8243593..8244617-chr4:8404301..8405948,10	MCF-7	breast:
12	chr4:8285233..8287238-chr4:8291804..8293316,2	K562	blood:
13	chr17:41464192..41467813-chr4:8218786..8220306,6	K562	blood:
14	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:
15	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
16	chr4:8243670..8244249-chr4:8412115..8412989,3	MCF-7	breast:
17	chr4:8280226..8283020-chr4:8285695..8288217,2	K562	blood:
18	chr4:8286640..8289515-chr4:8304226..8307184,3	K562	blood:
19	chr4:8285233..8287238-chr4:8291804..8293316,2	K562	blood:
20	chr4:8243949..8246187-chr4:8473186..8476131,2	MCF-7	breast:
21	chr4:8243003..8245939-chr4:8248896..8251754,2	MCF-7	breast:
22	chr4:8202798..8206403-chr4:8207013..8209683,3	K562	blood:
23	chr4:8219379..8221157-chr4:8375226..8376743,2	MCF-7	breast:
24	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
25	chr4:8243862..8244409-chr4:8407695..8408313,2	MCF-7	breast:
26	chr4:8243135..8244560-chr4:8404576..8405520,11	K562	blood:
27	chr4:8254660..8257385-chr4:8260489..8263167,2	MCF-7	breast:
28	chr4:8281411..8283569-chr4:8285664..8289042,3	MCF-7	breast:
29	chr4:8244036..8244570-chr4:8408366..8408880,3	K562	blood:
30	chr4:8230516..8235728-chr4:8236550..8239148,4	MCF-7	breast:
31	chr1:160082463..160083986-chr4:8218786..8220306,2	K562	blood:
32	chr4:8243635..8244141-chr4:8412098..8412912,2	K562	blood:
33	chr4:8252135..8255007-chr4:8262927..8264616,3	K562	blood:
34	chr4:8247640..8250580-chr4:8396679..8398196,2	K562	blood:
35	chr11:62609126..62610640-chr4:8218786..8220306,2	K562	blood:
36	chr4:8246169..8248159-chr4:8249694..8252255,2	K562	blood:
37	chr3:73158604..73161603-chr4:8218786..8220306,2	K562	blood:
38	chr4:8243346..8245051-chr4:8408250..8411036,2	K562	blood:
39	chr4:8261913..8264810-chr4:8267913..8270603,2	K562	blood:
40	chr4:8268685..8271204-chr4:8420095..8422355,2	MCF-7	breast:
41	chr4:8246169..8248159-chr4:8249694..8252255,2	K562	blood:
42	chr4:8266213..8269192-chr4:8274192..8276756,2	K562	blood:
43	chr4:8243003..8245939-chr4:8248896..8251754,2	MCF-7	breast:
44	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
45	chr4:8271372..8272005-chr5:137514142..137514696,2	NB4	blood:
46	chr4:8252135..8255007-chr4:8262927..8264616,3	K562	blood:
47	chr4:8254660..8257385-chr4:8260489..8263167,2	MCF-7	breast:
48	chr4:8244003..8244602-chr4:8267775..8268462,2	MCF-7	breast:
49	chr4:8276397..8277253-chr4:8404609..8405203,3	MCF-7	breast:
50	chr11:62607698..62610640-chr4:8218786..8220306,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HTRA3-5	chr4:8206894-8206990	NONHSAT095079
2	lnc-HTRA3-5	chr4:8203113-8203274	NONHSAT095079
3	lnc-HTRA3-5	chr4:8206894-8207339	NONHSAT095078

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HTRA3	hsa-miR-124-3p	chr4:8297797-8297818

Variant related genes	Relation type
SH3TC1	TF binding region
HTRA3	TF binding region
SH3TC1	CpG island
HTRA3	CpG island
ENSG00000188825	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000163995	chromatin interactions
ENSG00000169714	chromatin interactions
ENSG00000155275	chromatin interactions
ENSG00000125089	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000112984	chromatin interactions
ENSG00000247372	chromatin interactions
ENSG00000112983	chromatin interactions
ENSG00000170801	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000148843	chromatin interactions
ENSG00000087008	chromatin interactions

Extended variants
information (count: 5988 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:5988 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1281121	chr4:8202211-8202212	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540764191	chr4:8202214-8202215	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs79734456	chr4:8202270-8202271	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs530192700	chr4:8202281-8202282	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs542456579	chr4:8202297-8202298	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs142509377	chr4:8202298-8202299	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531208114	chr4:8202327-8202328	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552946262	chr4:8202354-8202355	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs187216286	chr4:8202359-8202360	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs528491020	chr4:8202382-8202383	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373182397	chr4:8202399-8202400	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559325846	chr4:8202403-8202404	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs191650273	chr4:8202424-8202425	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568558108	chr4:8202425-8202426	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs181721879	chr4:8202431-8202432	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs187138305	chr4:8202447-8202448	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs190037020	chr4:8202458-8202459	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs112847950	chr4:8202459-8202460	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs182624978	chr4:8202470-8202471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs186553157	chr4:8202478-8202479	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs150942297	chr4:8202483-8202484	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs75331395	chr4:8202486-8202487	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs574495867	chr4:8202493-8202494	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs189765384	chr4:8202532-8202533	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs115147012	chr4:8202549-8202550	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs73077998	chr4:8202565-8202566	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114399815	chr4:8202566-8202567	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs564812332	chr4:8202572-8202573	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528443249	chr4:8202584-8202585	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs546995469	chr4:8202643-8202644	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs530194816	chr4:8202645-8202646	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs548781376	chr4:8202647-8202648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs561970495	chr4:8202663-8202664	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs115649794	chr4:8202681-8202682	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs1281122	chr4:8202698-8202699	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs139468778	chr4:8202709-8202710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183894642	chr4:8202777-8202778	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs537130111	chr4:8202778-8202779	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs369909303	chr4:8202782-8202783	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs552010694	chr4:8202809-8202810	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570739710	chr4:8202829-8202830	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs35438442	chr4:8202836-8202837	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs1298472	chr4:8202841-8202842	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56398014	chr4:8202864-8202865	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117225837	chr4:8202871-8202872	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs149737666	chr4:8202876-8202877	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs557095865	chr4:8202909-8202910	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs1078861	chr4:8202914-8202915	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188787987	chr4:8202918-8202919	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564598272	chr4:8202919-8202920	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Oligozoospermia	20877625	CNVD
Autism	20841430	CNVD

Chromatin state (count:3373 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:8200000-8203200	Enhancers	Fetal Heart	heart
4	chr4:8200000-8204000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:8200200-8203200	Flanking Active TSS	Colonic Mucosa	Colon
7	chr4:8200200-8203800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:8200200-8204000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:8200200-8204000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr4:8200200-8204800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:8200200-8205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:8200400-8203000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:8200400-8203000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr4:8200400-8203600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:8200400-8203600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr4:8200400-8203600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:8200400-8204000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:8200400-8204000	Active TSS	Brain Anterior Caudate	brain
19	chr4:8200400-8204400	Flanking Active TSS	Fetal Thymus	thymus
20	chr4:8200600-8202400	Flanking Active TSS	Spleen	Spleen
21	chr4:8200600-8202600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:8200600-8202800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr4:8200600-8202800	Flanking Active TSS	Pancreas	Pancrea
24	chr4:8200600-8202800	Enhancers	K562	blood
25	chr4:8200600-8203000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:8200600-8203000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr4:8200600-8203000	Flanking Active TSS	Osteobl	bone
28	chr4:8200600-8203200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:8200600-8203200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:8200600-8203200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:8200600-8203400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:8200600-8203600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:8200600-8203800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:8200600-8204000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:8200600-8204000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:8200600-8205200	Flanking Active TSS	Dnd41	blood
37	chr4:8200800-8202600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:8200800-8202800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:8200800-8202800	Active TSS	Fetal Kidney	kidney
40	chr4:8200800-8203000	Flanking Active TSS	Fetal Stomach	stomach
41	chr4:8200800-8203000	Active TSS	Hela-S3	cervix
42	chr4:8200800-8203200	Active TSS	Brain Substantia Nigra	brain
43	chr4:8200800-8203400	Flanking Active TSS	Placenta	Placenta
44	chr4:8200800-8203800	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr4:8201000-8202400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:8201000-8202400	Flanking Active TSS	Left Ventricle	heart
47	chr4:8201000-8202600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr4:8201000-8202800	Flanking Active TSS	Lung	lung
49	chr4:8201000-8202800	Active TSS	Psoas Muscle	Psoas
50	chr4:8201000-8202800	Flanking Active TSS	Stomach Mucosa	stomach

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