Variant report

Variant	rs4697952
Chromosome Location	chr4:10173019-10173020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr4:10172617-10173165	K562	blood:	n/a	n/a
2	POLR2A	chr4:10170789-10176211	K562	blood:	n/a	n/a
3	JUND	chr4:10172557-10173106	K562	blood:	n/a	n/a
4	GATA1	chr4:10172465-10173918	K562	blood:	n/a	n/a
5	IRF1	chr4:10172553-10176799	K562	blood:	n/a	n/a
6	CEBPB	chr4:10172609-10173160	K562	blood:	n/a	n/a
7	ZNF143	chr4:10172693-10173042	K562	blood:	n/a	n/a
8	GATA1	chr4:10171952-10173230	PBDE	blood:	n/a	n/a
9	CBX3	chr4:10172528-10173040	K562	blood:	n/a	n/a
10	TEAD4	chr4:10172443-10173166	K562	blood:	n/a	n/a
11	CEBPB	chr4:10172598-10173134	K562	blood:	n/a	n/a
12	POLR2A	chr4:10172338-10175807	K562	blood:	n/a	n/a
13	IRF1	chr4:10172618-10173456	K562	blood:	n/a	n/a
14	CCNT2	chr4:10172601-10173063	K562	blood:	n/a	n/a
15	ARID3A	chr4:10172580-10173201	K562	blood:	n/a	n/a
16	MAZ	chr4:10172803-10173071	K562	blood:	n/a	n/a
17	HMGN3	chr4:10172761-10173081	K562	blood:	n/a	n/a
18	RCOR1	chr4:10172629-10173088	K562	blood:	n/a	n/a
19	EP300	chr4:10172100-10174456	K562	blood:	n/a	n/a
20	TBL1XR1	chr4:10172641-10176374	K562	blood:	n/a	n/a
21	CUX1	chr4:10172606-10173069	K562	blood:	n/a	n/a
22	MAX	chr4:10172693-10173022	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10171115..10173658-chr4:10254307..10257090,2	K562	blood:
2	chr4:10171484..10174076-chr4:10483105..10485442,2	K562	blood:
3	chr4:10116325..10123199-chr4:10169149..10177855,21	K562	blood:
4	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
5	chr4:10172802..10175283-chr4:10404131..10407127,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251296	TF binding region
ENSG00000071127	Chromatin interaction
ENSG00000223086	Chromatin interaction

Extended variants
information (count: 249 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs10000104	0.88[ASN][1000 genomes]
rs10010656	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs1001218	0.95[JPT][hapmap]
rs10017447	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10023177	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs10024152	0.87[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10025456	0.81[CHB][hapmap]
rs10025980	0.90[ASN][1000 genomes]
rs10026434	0.82[ASN][1000 genomes]
rs10029208	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs10030776	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10030782	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10031694	0.90[ASN][1000 genomes]
rs10033955	0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10489077	0.81[JPT][hapmap]
rs10939762	0.84[JPT][hapmap]
rs10939766	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10939801	0.87[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap]
rs10939829	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs11721530	0.87[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs11722345	0.87[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs11723976	0.89[ASN][1000 genomes]
rs11724092	0.88[ASN][1000 genomes]
rs11724641	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[ASN][1000 genomes]
rs11726987	0.88[ASN][1000 genomes]
rs11726996	0.82[ASN][1000 genomes]
rs11727261	0.90[JPT][hapmap]
rs11727366	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11727398	0.88[ASN][1000 genomes]
rs11728574	0.81[JPT][hapmap]
rs11731597	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs11732380	0.84[ASN][1000 genomes]
rs11734554	0.82[ASN][1000 genomes]
rs11734623	0.82[ASN][1000 genomes]
rs11737347	0.87[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs11929718	0.87[ASN][1000 genomes]
rs11937220	0.89[CHD][hapmap];0.90[JPT][hapmap]
rs11945358	0.90[JPT][hapmap]
rs11947517	0.82[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs12505722	0.81[JPT][hapmap]
rs12509082	0.81[JPT][hapmap]
rs12511548	0.81[JPT][hapmap]
rs13118272	0.81[JPT][hapmap]
rs13120791	0.81[JPT][hapmap]
rs13125564	0.81[JPT][hapmap]
rs13126688	0.81[JPT][hapmap]
rs13134726	0.81[JPT][hapmap]
rs1541522	0.81[JPT][hapmap]
rs16868326	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs16894579	0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs16894893	0.86[CHB][hapmap]
rs1860896	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1860907	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs1860912	0.81[JPT][hapmap]
rs1990469	0.82[ASN][1000 genomes]
rs1990470	0.82[ASN][1000 genomes]
rs2068466	0.91[CHD][hapmap];0.91[ASN][1000 genomes]
rs2080075	0.82[ASN][1000 genomes]
rs2080076	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080077	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2098232	0.82[ASN][1000 genomes]
rs2098233	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098234	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098236	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2110028	0.81[JPT][hapmap]
rs2110029	0.83[JPT][hapmap]
rs2159864	0.87[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2159865	0.84[ASN][1000 genomes]
rs2192088	0.82[ASN][1000 genomes]
rs2192097	0.81[JPT][hapmap]
rs2192100	0.81[JPT][hapmap]
rs2192101	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2215687	0.81[JPT][hapmap]
rs2215691	0.87[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs2215693	0.81[JPT][hapmap]
rs2241465	0.81[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2241466	0.81[JPT][hapmap]
rs2241486	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2241487	0.81[JPT][hapmap]
rs2303401	0.81[JPT][hapmap]
rs231	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs28414564	0.85[ASN][1000 genomes]
rs28496435	0.88[ASN][1000 genomes]
rs28528791	0.85[ASN][1000 genomes]
rs2868414	0.82[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2868416	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2868420	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2869214	0.81[JPT][hapmap]
rs3756217	0.81[JPT][hapmap]
rs4140695	0.81[JPT][hapmap]
rs4235358	0.81[JPT][hapmap]
rs4273473	0.87[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs4406017	0.81[JPT][hapmap]
rs4461524	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4478188	0.81[JPT][hapmap]
rs4522862	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs4572881	0.81[JPT][hapmap]
rs4697718	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4697719	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4697720	0.99[ASN][1000 genomes]
rs4697721	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4697723	0.81[JPT][hapmap]
rs4697724	0.92[ASN][1000 genomes]
rs4697725	0.80[JPT][hapmap]
rs4697726	0.87[ASN][1000 genomes]
rs4697727	0.87[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs4697728	0.87[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs4697729	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4697730	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4697731	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4697732	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs4697734	0.81[JPT][hapmap]
rs4697736	0.81[JPT][hapmap]
rs4697737	0.81[JPT][hapmap]
rs4697744	0.87[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap]
rs4697750	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4697751	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4697941	0.94[ASW][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs4697942	0.81[JPT][hapmap]
rs4697943	0.81[JPT][hapmap]
rs4697944	0.81[JPT][hapmap]
rs4697945	0.81[JPT][hapmap]
rs4697946	0.90[ASN][1000 genomes]
rs4697950	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4697953	0.81[JPT][hapmap]
rs4697954	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4697956	0.85[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs4697958	0.87[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4697959	0.81[JPT][hapmap]
rs4697960	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4697961	0.88[ASN][1000 genomes]
rs4697962	0.88[ASN][1000 genomes]
rs4697963	0.88[ASN][1000 genomes]
rs4697964	0.87[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4697965	0.87[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.86[ASN][1000 genomes]
rs4697966	0.82[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs4697967	0.84[ASN][1000 genomes]
rs4697968	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4697969	0.82[ASN][1000 genomes]
rs4697971	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4697972	0.82[ASN][1000 genomes]
rs4697973	0.82[ASN][1000 genomes]
rs4697974	0.82[ASN][1000 genomes]
rs4697977	0.87[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs4697985	0.81[JPT][hapmap]
rs4697986	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4697987	0.81[JPT][hapmap]
rs4697990	0.81[JPT][hapmap]
rs4697997	0.81[JPT][hapmap]
rs4698025	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs55775442	0.82[ASN][1000 genomes]
rs55878266	0.82[ASN][1000 genomes]
rs56391253	0.88[ASN][1000 genomes]
rs57985219	0.81[ASN][1000 genomes]
rs62285986	0.88[ASN][1000 genomes]
rs6449338	0.99[ASN][1000 genomes]
rs6449342	0.83[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs6449351	0.85[ASN][1000 genomes]
rs6449355	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6449414	0.81[JPT][hapmap]
rs66769576	0.81[ASN][1000 genomes]
rs6810699	0.87[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs6812780	0.89[CHD][hapmap];0.85[GIH][hapmap]
rs6813385	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs6823778	0.82[ASN][1000 genomes]
rs6826383	0.84[ASN][1000 genomes]
rs6826450	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs6830786	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6832085	0.85[ASN][1000 genomes]
rs6836606	0.82[ASN][1000 genomes]
rs6844061	0.88[ASN][1000 genomes]
rs6849583	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs6850167	0.81[JPT][hapmap]
rs6851536	0.87[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap]
rs6853056	0.87[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap]
rs6854212	0.90[JPT][hapmap]
rs6855489	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.82[ASN][1000 genomes]
rs6858209	0.87[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs723663	0.87[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs723664	0.92[ASN][1000 genomes]
rs727995	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs737678	0.81[JPT][hapmap]
rs759031	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs759032	0.81[JPT][hapmap]
rs7657551	0.87[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs7670376	0.87[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7670692	0.81[JPT][hapmap]
rs7673788	0.94[ASN][1000 genomes]
rs7675945	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7679297	0.94[ASN][1000 genomes]
rs7688808	0.81[JPT][hapmap]
rs7690319	0.82[ASN][1000 genomes]
rs7692419	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs874079	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs887726	0.81[JPT][hapmap]
rs887727	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs887728	0.87[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs887731	0.87[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs887734	0.91[ASN][1000 genomes]
rs917823	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs917824	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs917825	0.87[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs917827	0.87[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap]
rs9283699	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9291661	0.89[ASN][1000 genomes]
rs956311	0.87[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs956312	0.87[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9990501	0.87[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs9997234	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
3	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
4	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
6	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
7	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
9	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
11	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
12	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
13	nsv537026	chr4:9903566-10262258	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
14	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
15	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
16	esv2752052	chr4:9911872-10313111	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
17	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
18	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
19	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
20	nsv1013022	chr4:9961220-10230042	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
21	nsv537028	chr4:9961220-10230042	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
22	nsv537029	chr4:9961220-10262258	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
23	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
24	nsv1013487	chr4:9972011-10320963	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
25	nsv1008067	chr4:10004664-10262258	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
26	nsv537030	chr4:10004664-10262258	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
27	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
28	nsv537031	chr4:10040713-10262258	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
29	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
30	nsv428438	chr4:10058226-10273779	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
31	nsv537032	chr4:10069805-10262258	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
32	nsv537033	chr4:10069805-10297561	Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
33	nsv1003286	chr4:10082156-10230606	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
34	esv16807	chr4:10099819-10234566	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
35	nsv537034	chr4:10103058-10262258	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
36	nsv537035	chr4:10103058-10297561	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
37	esv2752053	chr4:10124819-10270300	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
38	esv1000327	chr4:10135604-10192545	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
39	nsv593695	chr4:10138470-10345548	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
40	nsv1010383	chr4:10169535-10244955	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4697952	HTRA3	cis	cerebellum	SCAN
rs4697952	TADA2B	cis	cerebellum	SCAN
rs4697952	WDR1	Cis_1M	lymphoblastoid	RTeQTL
rs4697952	CPZ	cis	cerebellum	SCAN
rs4697952	WDR1	cis	parietal	SCAN
rs4697952	SH3TC1	cis	cerebellum	SCAN
rs4697952	HSP90AB2P	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10165000-10174000	Weak transcription	Gastric	stomach
2	chr4:10165200-10173800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:10166000-10175400	Weak transcription	Pancreas	Pancrea
4	chr4:10166200-10174000	Weak transcription	Left Ventricle	heart
5	chr4:10167200-10174400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:10169200-10173600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:10169800-10173400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:10170200-10174000	Weak transcription	Fetal Thymus	thymus
9	chr4:10170200-10174000	Weak transcription	Right Atrium	heart
10	chr4:10170200-10174200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:10170400-10173800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:10170400-10174000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:10170600-10173600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:10171000-10174000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:10171400-10175600	Enhancers	Fetal Heart	heart
16	chr4:10171600-10176400	Flanking Active TSS	K562	blood
17	chr4:10172400-10174200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:10172400-10174800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:10172400-10175400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:10172400-10176400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:10172400-10176600	Enhancers	HMEC	breast
22	chr4:10172600-10173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:10172600-10173400	Enhancers	Fetal Intestine Large	intestine
24	chr4:10172600-10173800	Enhancers	Stomach Mucosa	stomach
25	chr4:10172600-10174800	Enhancers	Fetal Intestine Small	intestine
26	chr4:10172600-10176400	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:10172600-10176400	Enhancers	NHEK	skin
28	chr4:10172800-10173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:10172800-10173800	Weak transcription	Placenta	Placenta
30	chr4:10172800-10173800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:10172800-10174000	Weak transcription	HSMM	muscle
32	chr4:10172800-10178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:10173000-10174000	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links