Variant report

Variant	esv2763338
Chromosome Location	chr4:8199091-8260812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2595)
CpG islands
(count:2871)
Chromatin interactive
region (count:82)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2595 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:8227773-8228124	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:8240304-8240605	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:8200832-8201080	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:8254490-8254732	K562	blood:	n/a	n/a
5	ARID3A	chr4:8244929-8245080	K562	blood:	n/a	n/a
6	ARID3A	chr4:8202213-8202581	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:8244040-8244260	HepG2	liver:	n/a	n/a
8	ATF1	chr4:8254361-8254786	K562	blood:	n/a	n/a
9	ATF1	chr4:8202225-8202706	K562	blood:	n/a	n/a
10	ATF1	chr4:8220182-8220394	K562	blood:	n/a	n/a
11	ATF1	chr4:8223428-8223513	K562	blood:	n/a	n/a
12	ATF2	chr4:8203146-8203570	GM12878	blood:	n/a	n/a
13	ATF2	chr4:8200545-8201122	GM12878	blood:	n/a	n/a
14	ATF2	chr4:8243931-8244299	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr4:8230182-8231087	GM12878	blood:	n/a	n/a
16	ATF2	chr4:8243931-8244274	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:8203157-8203703	GM12878	blood:	n/a	n/a
18	ATF2	chr4:8230227-8230995	GM12878	blood:	n/a	n/a
19	ATF2	chr4:8200447-8201221	GM12878	blood:	n/a	n/a
20	ATF3	chr4:8243980-8244184	K562	blood:	n/a	chr4:8244062-8244071 chr4:8244108-8244116
21	ATF3	chr4:8202500-8202669	K562	blood:	n/a	n/a
22	BACH1	chr4:8244170-8244172	K562	blood:	n/a	n/a
23	BACH1	chr4:8230123-8230900	H1-hESC	embryonic stem cell:	n/a	chr4:8230476-8230490
24	BACH1	chr4:8254579-8254646	K562	blood:	n/a	n/a
25	BACH1	chr4:8244014-8244385	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr4:8230293-8230668	K562	blood:	n/a	chr4:8230476-8230490
27	BACH1	chr4:8227896-8228237	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr4:8230281-8230848	GM12878	blood:	n/a	chr4:8230476-8230486
29	BATF	chr4:8230352-8230584	GM12878	blood:	n/a	chr4:8230476-8230486
30	BATF	chr4:8223336-8223630	GM12878	blood:	n/a	n/a
31	BATF	chr4:8223277-8223584	GM12878	blood:	n/a	n/a
32	BCL11A	chr4:8203313-8203587	GM12878	blood:	n/a	chr4:8203444-8203453
33	BCL11A	chr4:8203102-8203453	GM12878	blood:	n/a	chr4:8203444-8203453
34	BCL11A	chr4:8230278-8230620	GM12878	blood:	n/a	n/a
35	BCL11A	chr4:8200742-8201148	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
36	BCL11A	chr4:8230171-8231050	GM12878	blood:	n/a	n/a
37	BCL11A	chr4:8200750-8201203	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
38	BCL3	chr4:8230261-8231421	GM12878	blood:	n/a	n/a
39	BCLAF1	chr4:8200397-8201149	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
40	BCLAF1	chr4:8203140-8203628	GM12878	blood:	n/a	chr4:8203444-8203453
41	BCLAF1	chr4:8200346-8201218	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
42	BCLAF1	chr4:8230183-8231019	GM12878	blood:	n/a	n/a
43	BHLHE40	chr4:8203836-8204202	GM12878	blood:	n/a	n/a
44	BHLHE40	chr4:8254185-8254854	K562	blood:	n/a	n/a
45	BHLHE40	chr4:8223229-8223700	GM12878	blood:	n/a	n/a
46	BHLHE40	chr4:8228103-8228124	HepG2	liver:	n/a	n/a
47	BHLHE40	chr4:8232956-8233380	K562	blood:	n/a	n/a
48	BHLHE40	chr4:8211333-8211402	K562	blood:	n/a	n/a
49	BHLHE40	chr4:8230103-8231100	GM12878	blood:	n/a	n/a
50	BHLHE40	chr4:8200406-8201154	K562	blood:	n/a	chr4:8200519-8200540

(count:2871 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8221101-8221151	HUVEC	blood vessel:	n/a
2	chr4:8253322-8253372	GM06990	blood:	n/a
3	chr4:8200974-8201024	K562	blood:	n/a
4	chr4:8249430-8249480	HCT-116	colon:	n/a
5	chr4:8221101-8221151	HUVEC	blood vessel:	n/a
6	chr4:8253322-8253372	GM06990	blood:	n/a
7	chr4:8200974-8201024	K562	blood:	n/a
8	chr4:8249430-8249480	HCT-116	colon:	n/a
9	chr4:8228048-8228098	RPTEC	kidney:	n/a
10	chr4:8239254-8239304	MCF-7	breast:	n/a
11	chr4:8256315-8256365	HMEC	breast:	n/a
12	chr4:8230053-8230103	GM19239	blood:	n/a
13	chr4:8253322-8253372	GM12892	blood:	n/a
14	chr4:8207250-8207300	AG04450	lung:	fetal
15	chr4:8239303-8239353	AG04450	lung:	fetal
16	chr4:8253322-8253372	CMK	blood:	n/a
17	chr4:8207325-8207375	HCPEpiC	choroid plexus:	n/a
18	chr4:8256315-8256365	SKMC	muscle:	n/a
19	chr4:8248444-8248494	BE2_C	brain:	n/a
20	chr4:8233126-8233176	K562	blood:	n/a
21	chr4:8230689-8230739	HCPEpiC	choroid plexus:	n/a
22	chr4:8248465-8248515	GM12892	blood:	n/a
23	chr4:8216813-8216863	ProgFib	skin:	n/a
24	chr4:8231787-8231837	AG04449	skin:	fetal
25	chr4:8228048-8228098	A549	lung:	n/a
26	chr4:8233394-8233444	SAEC	small airway:	n/a
27	chr4:8200774-8200824	IMR90	lung:	fetal
28	chr4:8201125-8201175	MCF-7	breast:	n/a
29	chr4:8233264-8233314	GM12891	blood:	n/a
30	chr4:8207058-8207108	U87	brain:	n/a
31	chr4:8249430-8249480	IMR90	lung:	fetal
32	chr4:8200774-8200824	Hela-S3	cervix:	n/a
33	chr4:8239220-8239270	NT2-D1	testis:	n/a
34	chr4:8253707-8253757	SKMC	muscle:	n/a
35	chr4:8201560-8201610	CMK	blood:	n/a
36	chr4:8200774-8200824	NT2-D1	testis:	n/a
37	chr4:8228048-8228098	GM06990	blood:	n/a
38	chr4:8229159-8229209	NHBE	bronchial:	n/a
39	chr4:8256393-8256443	SK-N-SH_RA	brain:	n/a
40	chr4:8253235-8253285	AG04450	lung:	fetal
41	chr4:8256315-8256365	HepG2	liver:	n/a
42	chr4:8253470-8253520	NB4	blood:	n/a
43	chr4:8221472-8221522	LNCaP	prostate:	n/a
44	chr4:8229159-8229209	HAEpiC	amniotic membrane:	n/a
45	chr4:8233264-8233314	LNCaP	prostate:	n/a
46	chr4:8233264-8233314	H1-hESC	embryonic stem cell:	embryo
47	chr4:8200774-8200824	AG04450	lung:	fetal
48	chr4:8229159-8229209	SK-N-SH	brain:	n/a
49	chr4:8207325-8207375	AG04450	lung:	fetal
50	chr4:8233394-8233444	RPTEC	kidney:	n/a

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:8238966..8241301-chr4:8261569..8263591,2	MCF-7	breast:
2	chr4:8211892..8215889-chr4:8218251..8222766,5	MCF-7	breast:
3	chr4:8244003..8244602-chr4:8267775..8268462,2	MCF-7	breast:
4	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
5	chr2:74258378..74259054-chr4:8199921..8200797,2	MCF-7	breast:
6	chr4:8201150..8205648-chr4:8206751..8210488,5	MCF-7	breast:
7	chr17:41465548..41466152-chr4:8218286..8218806,2	MCF-7	breast:
8	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
9	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:
10	chr4:8254660..8257385-chr4:8260489..8263167,2	MCF-7	breast:
11	chr4:8252940..8255402-chr4:8411571..8414054,2	K562	blood:
12	chr11:62609146..62609723-chr4:8218786..8219286,2	HCT-116	colon:
13	chr4:8201531..8203736-chr4:8237028..8240221,3	MCF-7	breast:
14	chr4:8233606..8235264-chr4:8235764..8238250,2	MCF-7	breast:
15	chr4:8217481..8219669-chr4:8436164..8438381,2	MCF-7	breast:
16	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:
17	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
18	chr4:8209569..8211422-chr4:8212311..8214321,2	K562	blood:
19	chr4:8247640..8250580-chr4:8396679..8398196,2	K562	blood:
20	chr4:8243586..8244597-chr4:8404569..8406088,15	MCF-7	breast:
21	chr4:8193914..8196178-chr4:8208983..8211317,3	MCF-7	breast:
22	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
23	chr17:41464192..41465862-chr4:8218786..8220286,2	K562	blood:
24	chr4:8243618..8244524-chr4:8268726..8269548,3	MCF-7	breast:
25	chr4:8211892..8215889-chr4:8218251..8222766,5	MCF-7	breast:
26	chr4:8195725..8198126-chr4:8238876..8240631,2	MCF-7	breast:
27	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
28	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
29	chr4:8243949..8246187-chr4:8473186..8476131,2	MCF-7	breast:
30	chr4:8243346..8245051-chr4:8408250..8411036,2	K562	blood:
31	chr17:41466254..41467859-chr4:8218786..8220306,2	MCF-7	breast:
32	chr4:8243593..8244617-chr4:8404301..8405948,10	MCF-7	breast:
33	chr4:8246169..8248159-chr4:8249694..8252255,2	K562	blood:
34	chr4:8236579..8238924-chr4:8243496..8245332,2	K562	blood:
35	chr4:8178683..8179355-chr4:8239861..8240827,2	K562	blood:
36	chr4:8246169..8248159-chr4:8249694..8252255,2	K562	blood:
37	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
38	chr4:8244036..8244570-chr4:8408366..8408880,3	K562	blood:
39	chr4:8205263..8208734-chr4:8209545..8212035,3	MCF-7	breast:
40	chr4:8203500..8205646-chr4:8217325..8220224,2	MCF-7	breast:
41	chr4:8233606..8235264-chr4:8235764..8238250,2	MCF-7	breast:
42	chr4:8178131..8179114-chr4:8239846..8240964,9	MCF-7	breast:
43	chr4:8243003..8245939-chr4:8248896..8251754,2	MCF-7	breast:
44	chr1:160082463..160083986-chr4:8218786..8220306,2	K562	blood:
45	chr17:41464854..41467656-chr4:8218806..8220306,2	MCF-7	breast:
46	chr4:8196365..8198460-chr4:8203921..8207190,4	K562	blood:
47	chr4:8201008..8201849-chr4:156775894..156776553,2	MCF-7	breast:
48	chr3:73158604..73161603-chr4:8218786..8220306,2	K562	blood:
49	chr3:73158604..73161603-chr4:8218786..8220306,4	K562	blood:
50	chr11:62607698..62610640-chr4:8218786..8220306,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HTRA3-5	chr4:8201025-8201132	NONHSAT095078
2	lnc-HTRA3-5	chr4:8203113-8203274	NONHSAT095079
3	lnc-HTRA3-5	chr4:8206894-8207339	NONHSAT095078
4	lnc-HTRA3-5	chr4:8206894-8206990	NONHSAT095079

No data

Variant related genes	Relation type
SH3TC1	TF binding region
SH3TC1	CpG island
ENSG00000155275	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000151790	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000163995	chromatin interactions
ENSG00000087008	chromatin interactions
ENSG00000125089	chromatin interactions
ENSG00000223247	chromatin interactions

Extended variants
information (count: 3563 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3563 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1678261	chr4:8199091-8199092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568361583	chr4:8199131-8199132	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs558392037	chr4:8199134-8199135	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs116008879	chr4:8199137-8199138	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556895276	chr4:8199138-8199139	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192400462	chr4:8199177-8199178	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539532729	chr4:8199181-8199182	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149888271	chr4:8199192-8199193	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573429849	chr4:8199199-8199200	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369841148	chr4:8199230-8199231	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540829065	chr4:8199297-8199298	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562208216	chr4:8199298-8199299	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145070398	chr4:8199330-8199331	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149124654	chr4:8199369-8199370	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71603915	chr4:8199372-8199373	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533195038	chr4:8199373-8199374	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116540360	chr4:8199384-8199385	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560214910	chr4:8199396-8199397	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376747264	chr4:8199401-8199402	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1678262	chr4:8199444-8199445	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544092022	chr4:8199451-8199452	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568191379	chr4:8199452-8199453	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112036693	chr4:8199457-8199458	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs33971920	chr4:8199458-8199459	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115652090	chr4:8199479-8199480	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550937539	chr4:8199514-8199515	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79054333	chr4:8199516-8199517	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73077980	chr4:8199554-8199555	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368781707	chr4:8199571-8199572	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539445369	chr4:8199613-8199614	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557848816	chr4:8199617-8199618	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572988255	chr4:8199625-8199626	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534102846	chr4:8199643-8199644	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs114557037	chr4:8199647-8199648	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185631028	chr4:8199658-8199659	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544878861	chr4:8199665-8199666	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34865472	chr4:8199717-8199718	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73077982	chr4:8199751-8199752	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574606310	chr4:8199768-8199769	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560401225	chr4:8199829-8199830	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577567041	chr4:8199832-8199833	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1678263	chr4:8199833-8199834	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs113738022	chr4:8199834-8199835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527765295	chr4:8199840-8199841	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192921607	chr4:8199891-8199892	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs143127299	chr4:8199927-8199928	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs73077985	chr4:8199953-8199954	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550849635	chr4:8199956-8199957	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569186488	chr4:8200016-8200017	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539403383	chr4:8200028-8200029	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 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:2389 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel
3	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
4	chr4:8191400-8199800	Weak transcription	Liver	Liver
5	chr4:8191800-8200800	Enhancers	Placenta	Placenta
6	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
7	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
8	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:8193600-8200400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:8194200-8199200	Enhancers	Thymus	Thymus
12	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
13	chr4:8195000-8199600	Weak transcription	Gastric	stomach
14	chr4:8195000-8200000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:8195000-8200000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:8195000-8200000	Weak transcription	Fetal Heart	heart
17	chr4:8195000-8200200	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:8195000-8200400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:8195200-8199800	Weak transcription	Fetal Kidney	kidney
20	chr4:8195200-8199800	Weak transcription	GM12878-XiMat	blood
21	chr4:8195200-8200000	Weak transcription	Hela-S3	cervix
22	chr4:8195400-8199600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:8195400-8199600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:8195400-8200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:8195400-8200800	Enhancers	Fetal Muscle Leg	muscle
26	chr4:8195600-8199400	Weak transcription	Primary B cells from cord blood	blood
27	chr4:8195600-8199400	Weak transcription	Fetal Intestine Small	intestine
28	chr4:8195600-8200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:8195600-8200600	Enhancers	Esophagus	oesophagus
30	chr4:8195800-8200600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:8196000-8200000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:8196000-8200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:8196200-8200000	Weak transcription	Fetal Intestine Large	intestine
35	chr4:8196200-8200200	Enhancers	Adipose Nuclei	Adipose
36	chr4:8196600-8200400	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:8196600-8200600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:8196800-8199600	Weak transcription	NHEK	skin
39	chr4:8197000-8200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:8197200-8200000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:8197600-8199600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:8197800-8199200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:8197800-8199600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr4:8198000-8199200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:8198000-8199400	Weak transcription	HMEC	breast
46	chr4:8198000-8200000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:8198000-8200200	Weak transcription	Fetal Lung	lung
48	chr4:8198200-8199400	Enhancers	Fetal Muscle Trunk	muscle
49	chr4:8198200-8200200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:8198400-8199400	Weak transcription	Colonic Mucosa	Colon

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