Variant report

Variant	esv1831794
Chromosome Location	chr4:8199833-8233341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1552)
CpG islands
(count:1709)
Chromatin interactive
region (count:42)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:8202213-8202581	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:8227773-8228124	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:8200832-8201080	HepG2	liver:	n/a	n/a
4	ATF1	chr4:8223428-8223513	K562	blood:	n/a	n/a
5	ATF1	chr4:8220182-8220394	K562	blood:	n/a	n/a
6	ATF1	chr4:8202225-8202706	K562	blood:	n/a	n/a
7	ATF2	chr4:8203157-8203703	GM12878	blood:	n/a	n/a
8	ATF2	chr4:8230227-8230995	GM12878	blood:	n/a	n/a
9	ATF2	chr4:8200545-8201122	GM12878	blood:	n/a	n/a
10	ATF2	chr4:8200447-8201221	GM12878	blood:	n/a	n/a
11	ATF2	chr4:8203146-8203570	GM12878	blood:	n/a	n/a
12	ATF2	chr4:8230182-8231087	GM12878	blood:	n/a	n/a
13	ATF3	chr4:8202500-8202669	K562	blood:	n/a	n/a
14	BACH1	chr4:8230123-8230900	H1-hESC	embryonic stem cell:	n/a	chr4:8230476-8230490
15	BACH1	chr4:8227896-8228237	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:8230293-8230668	K562	blood:	n/a	chr4:8230476-8230490
17	BATF	chr4:8223336-8223630	GM12878	blood:	n/a	n/a
18	BATF	chr4:8223277-8223584	GM12878	blood:	n/a	n/a
19	BATF	chr4:8230281-8230848	GM12878	blood:	n/a	chr4:8230476-8230486
20	BATF	chr4:8230352-8230584	GM12878	blood:	n/a	chr4:8230476-8230486
21	BCL11A	chr4:8200742-8201148	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
22	BCL11A	chr4:8230278-8230620	GM12878	blood:	n/a	n/a
23	BCL11A	chr4:8203313-8203587	GM12878	blood:	n/a	chr4:8203444-8203453
24	BCL11A	chr4:8200750-8201203	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
25	BCL11A	chr4:8230171-8231050	GM12878	blood:	n/a	n/a
26	BCL11A	chr4:8203102-8203453	GM12878	blood:	n/a	chr4:8203444-8203453
27	BCL3	chr4:8230261-8231421	GM12878	blood:	n/a	n/a
28	BCLAF1	chr4:8200346-8201218	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
29	BCLAF1	chr4:8200397-8201149	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
30	BCLAF1	chr4:8230183-8231019	GM12878	blood:	n/a	n/a
31	BCLAF1	chr4:8203140-8203628	GM12878	blood:	n/a	chr4:8203444-8203453
32	BHLHE40	chr4:8203836-8204202	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:8204521-8205184	GM12878	blood:	n/a	n/a
34	BHLHE40	chr4:8201877-8202438	HepG2	liver:	n/a	chr4:8201905-8201921
35	BHLHE40	chr4:8204556-8204938	HepG2	liver:	n/a	n/a
36	BHLHE40	chr4:8200406-8201154	K562	blood:	n/a	chr4:8200519-8200540
37	BHLHE40	chr4:8200267-8201188	GM12878	blood:	n/a	chr4:8200519-8200540
38	BHLHE40	chr4:8223229-8223700	GM12878	blood:	n/a	n/a
39	BHLHE40	chr4:8203297-8203306	K562	blood:	n/a	n/a
40	BHLHE40	chr4:8202796-8203608	GM12878	blood:	n/a	n/a
41	BHLHE40	chr4:8201709-8202500	GM12878	blood:	n/a	chr4:8201905-8201921
42	BHLHE40	chr4:8211333-8211402	K562	blood:	n/a	n/a
43	BHLHE40	chr4:8217197-8217387	K562	blood:	n/a	n/a
44	BHLHE40	chr4:8228103-8228124	HepG2	liver:	n/a	n/a
45	BHLHE40	chr4:8232956-8233380	K562	blood:	n/a	n/a
46	BHLHE40	chr4:8200385-8201166	HepG2	liver:	n/a	chr4:8200519-8200540
47	BHLHE40	chr4:8202103-8202647	K562	blood:	n/a	n/a
48	BHLHE40	chr4:8230103-8231100	GM12878	blood:	n/a	n/a
49	BHLHE40	chr4:8207826-8208041	GM12878	blood:	n/a	n/a
50	BHLHE40	chr4:8230311-8230536	K562	blood:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8200549-8200599	BJ	skin:	n/a
2	chr4:8200549-8200599	BJ	skin:	n/a
3	chr4:8201125-8201175	AG09319	gingival:	n/a
4	chr4:8233126-8233176	HRCEpiC	kidney:	n/a
5	chr4:8200852-8200902	HRCEpiC	kidney:	n/a
6	chr4:8207119-8207169	BJ	skin:	n/a
7	chr4:8230053-8230103	GM19239	blood:	n/a
8	chr4:8233264-8233314	NH-A	brain:	n/a
9	chr4:8201128-8201178	HPAEpiC	pulmonary alveolar:	n/a
10	chr4:8230689-8230739	ECC-1	luminal epithelium:	n/a
11	chr4:8200974-8201024	ProgFib	skin:	n/a
12	chr4:8207058-8207108	HCF	heart:	n/a
13	chr4:8229159-8229209	HEEpiC	esophagus:	n/a
14	chr4:8230689-8230739	GM12891	blood:	n/a
15	chr4:8200974-8201024	A549	lung:	n/a
16	chr4:8228048-8228098	SK-N-SH	brain:	n/a
17	chr4:8201125-8201175	ECC-1	luminal epithelium:	n/a
18	chr4:8221472-8221522	HCM	heart:	n/a
19	chr4:8230053-8230103	NB4	blood:	n/a
20	chr4:8207250-8207300	GM12878	blood:	n/a
21	chr4:8202531-8202581	SK-N-SH_RA	brain:	n/a
22	chr4:8201125-8201175	RPTEC	kidney:	n/a
23	chr4:8230689-8230739	MCF10A-Er-Src	breast:	n/a
24	chr4:8233126-8233176	U87	brain:	n/a
25	chr4:8221101-8221151	RPTEC	kidney:	n/a
26	chr4:8201128-8201178	GM12891	blood:	n/a
27	chr4:8206575-8206625	LNCaP	prostate:	n/a
28	chr4:8202280-8202330	GM12892	blood:	n/a
29	chr4:8229159-8229209	BJ	skin:	n/a
30	chr4:8221101-8221151	BE2_C	brain:	n/a
31	chr4:8207250-8207300	HNPCEpiC	eye:	n/a
32	chr4:8202531-8202581	HCM	heart:	n/a
33	chr4:8207250-8207300	HEK293	kidney:	embryo
34	chr4:8202531-8202581	RPTEC	kidney:	n/a
35	chr4:8230847-8230897	GM06990	blood:	n/a
36	chr4:8221472-8221522	PFSK-1	brain:	n/a
37	chr4:8207250-8207300	PANC-1	pancreas:	n/a
38	chr4:8228048-8228098	NHBE	bronchial:	n/a
39	chr4:8230689-8230739	AG09309	skin:	n/a
40	chr4:8201560-8201610	HRPEpiC	eye:	n/a
41	chr4:8230689-8230739	IMR90	lung:	fetal
42	chr4:8200852-8200902	K562	blood:	n/a
43	chr4:8233264-8233314	GM12878	blood:	n/a
44	chr4:8230689-8230739	HCPEpiC	choroid plexus:	n/a
45	chr4:8216813-8216863	HMEC	breast:	n/a
46	chr4:8206575-8206625	IMR90	lung:	fetal
47	chr4:8233126-8233176	RPTEC	kidney:	n/a
48	chr4:8230847-8230897	AG10803	skin:	n/a
49	chr4:8216813-8216863	HEEpiC	esophagus:	n/a
50	chr4:8207058-8207108	HCPEpiC	choroid plexus:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160082463..160083986-chr4:8218786..8220306,2	K562	blood:
2	chr3:73158604..73161603-chr4:8218786..8220306,4	K562	blood:
3	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
4	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:
5	chr17:41465548..41466152-chr4:8218286..8218806,2	MCF-7	breast:
6	chr17:41464192..41467813-chr4:8218786..8220306,6	K562	blood:
7	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:
8	chr17:41398862..41401693-chr4:8218786..8220306,3	K562	blood:
9	chr4:8211892..8215889-chr4:8218251..8222766,5	MCF-7	breast:
10	chr17:41464192..41465862-chr4:8218786..8220286,2	K562	blood:
11	chr3:73158604..73161603-chr4:8218786..8220306,2	K562	blood:
12	chr4:8206620..8209251-chr4:8213740..8215490,2	MCF-7	breast:
13	chr4:8202634..8204375-chr4:8204383..8206592,2	MCF-7	breast:
14	chr17:41399112..41402290-chr4:8218786..8220306,3	K562	blood:
15	chr11:62609146..62609723-chr4:8218786..8219286,2	HCT-116	colon:
16	chr4:8209569..8211422-chr4:8212311..8214321,2	K562	blood:
17	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
18	chr4:8203500..8205646-chr4:8217325..8220224,2	MCF-7	breast:
19	chr17:41464854..41467656-chr4:8218806..8220306,2	MCF-7	breast:
20	chr2:74258378..74259054-chr4:8199921..8200797,2	MCF-7	breast:
21	chr4:8219379..8221157-chr4:8375226..8376743,2	MCF-7	breast:
22	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
23	chr17:41466254..41467859-chr4:8218786..8220306,2	MCF-7	breast:
24	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:
25	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
26	chr4:8204604..8207320-chr4:8213479..8215268,2	K562	blood:
27	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
28	chr4:8204604..8207320-chr4:8213479..8215268,2	K562	blood:
29	chr11:62609126..62610640-chr4:8218786..8220306,2	K562	blood:
30	chr4:8196365..8198460-chr4:8203921..8207190,4	K562	blood:
31	chr4:8201150..8205648-chr4:8206751..8210488,5	MCF-7	breast:
32	chr4:8210808..8214935-chr4:8218365..8221781,3	K562	blood:
33	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
34	chr11:62607698..62610640-chr4:8218786..8220306,3	K562	blood:
35	chr4:8201008..8201849-chr4:156775894..156776553,2	MCF-7	breast:
36	chr4:8217481..8219669-chr4:8436164..8438381,2	MCF-7	breast:
37	chr4:8205263..8208734-chr4:8209545..8212035,3	MCF-7	breast:
38	chr4:8193914..8196178-chr4:8208983..8211317,3	MCF-7	breast:
39	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
40	chr4:8211892..8215889-chr4:8218251..8222766,5	MCF-7	breast:
41	chr11:62608635..62609624-chr4:8218786..8219306,3	MCF-7	breast:
42	chr4:8202798..8206403-chr4:8207013..8209683,3	K562	blood:

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

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

No data

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

Extended variants
information (count: 1957 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1957 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	rs113738022	chr4:8199834-8199835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527765295	chr4:8199840-8199841	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	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
5	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
6	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
7	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
8	rs569186488	chr4:8200016-8200017	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs539403383	chr4:8200028-8200029	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551416490	chr4:8200078-8200079	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs57380207	chr4:8200092-8200093	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184694735	chr4:8200099-8200100	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs114683965	chr4:8200129-8200130	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567844724	chr4:8200134-8200135	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141355823	chr4:8200164-8200165	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556398250	chr4:8200181-8200182	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577940766	chr4:8200262-8200263	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77913915	chr4:8200270-8200271	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146476472	chr4:8200284-8200285	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572390342	chr4:8200289-8200290	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs373172152	chr4:8200292-8200293	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550156485	chr4:8200293-8200294	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571680901	chr4:8200302-8200303	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188659072	chr4:8200306-8200307	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544436349	chr4:8200354-8200355	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377526595	chr4:8200374-8200375	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565543953	chr4:8200391-8200392	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73077988	chr4:8200432-8200433	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533241142	chr4:8200485-8200486	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548143144	chr4:8200494-8200495	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551730932	chr4:8200515-8200516	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554116025	chr4:8200516-8200517	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566268602	chr4:8200529-8200530	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566451167	chr4:8200540-8200541	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536899014	chr4:8200557-8200558	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs181403577	chr4:8200567-8200568	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549016266	chr4:8200599-8200600	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs3101827	chr4:8200633-8200634	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532088474	chr4:8200634-8200635	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538014845	chr4:8200646-8200647	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs139177444	chr4:8200648-8200649	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147305036	chr4:8200670-8200671	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571543342	chr4:8200691-8200692	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs141401797	chr4:8200700-8200701	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs554218086	chr4:8200707-8200708	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs572361802	chr4:8200731-8200732	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150414442	chr4:8200741-8200742	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370774204	chr4:8200762-8200763	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs576480346	chr4:8200775-8200776	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs543960787	chr4:8200789-8200790	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:1673 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
3	chr4:8191800-8200800	Enhancers	Placenta	Placenta
4	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
6	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:8193600-8200400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
10	chr4:8195000-8200000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:8195000-8200000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:8195000-8200000	Weak transcription	Fetal Heart	heart
13	chr4:8195000-8200200	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:8195000-8200400	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:8195200-8200000	Weak transcription	Hela-S3	cervix
16	chr4:8195400-8200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:8195400-8200800	Enhancers	Fetal Muscle Leg	muscle
18	chr4:8195600-8200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:8195600-8200600	Enhancers	Esophagus	oesophagus
20	chr4:8195800-8200600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:8196000-8200000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:8196000-8200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:8196200-8200000	Weak transcription	Fetal Intestine Large	intestine
25	chr4:8196200-8200200	Enhancers	Adipose Nuclei	Adipose
26	chr4:8196600-8200400	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:8196600-8200600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:8197000-8200200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:8197200-8200000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:8198000-8200000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:8198000-8200200	Weak transcription	Fetal Lung	lung
32	chr4:8198200-8200200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:8198600-8200200	Weak transcription	Left Ventricle	heart
34	chr4:8198600-8200200	Weak transcription	Right Atrium	heart
35	chr4:8198800-8200000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:8198800-8200000	Weak transcription	Right Ventricle	heart
37	chr4:8198800-8201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:8199000-8200600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:8199000-8200800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr4:8199200-8200000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:8199200-8200200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8199200-8200600	Enhancers	Pancreas	Pancrea
43	chr4:8199200-8200600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:8199200-8200600	Enhancers	Spleen	Spleen
45	chr4:8199400-8200000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr4:8199400-8200000	Bivalent Enhancer	HepG2	liver
47	chr4:8199400-8200200	Enhancers	Primary B cells from cord blood	blood
48	chr4:8199400-8200200	Enhancers	Colonic Mucosa	Colon
49	chr4:8199400-8200200	Enhancers	HMEC	breast
50	chr4:8199400-8200600	Enhancers	Fetal Intestine Small	intestine

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