Variant report

Variant	rs11771771
Chromosome Location	chr7:150557578-150557579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150521643..150523890-chr7:150556049..150558134,2	K562	blood:
2	chr7:150556165..150558158-chr7:150561303..150563873,2	K562	blood:

Variant related genes	Relation type
ENSG00000002726	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10264084	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs10264535	0.86[ASN][1000 genomes]
rs10264799	0.86[ASN][1000 genomes]
rs10264902	0.86[ASN][1000 genomes]
rs10269643	1.00[JPT][hapmap]
rs10279036	0.86[ASN][1000 genomes]
rs10279051	0.86[ASN][1000 genomes]
rs10279186	0.86[ASN][1000 genomes]
rs10452847	1.00[JPT][hapmap]
rs11760854	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11762854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11763311	1.00[JPT][hapmap]
rs11764238	0.86[ASN][1000 genomes]
rs11767097	0.90[ASN][1000 genomes]
rs11768123	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs11770409	0.90[ASN][1000 genomes]
rs11772624	0.86[ASN][1000 genomes]
rs11773715	0.90[ASN][1000 genomes]
rs12670489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12670945	0.90[ASN][1000 genomes]
rs12671154	0.90[ASN][1000 genomes]
rs17173650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17173651	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17173652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17258890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2191754	0.90[ASN][1000 genomes]
rs2215562	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2215563	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215564	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373877	0.82[ASN][1000 genomes]
rs2373879	1.00[CHB][hapmap]
rs28425705	0.86[ASN][1000 genomes]
rs28670237	0.86[ASN][1000 genomes]
rs28785222	0.86[ASN][1000 genomes]
rs28847671	0.86[ASN][1000 genomes]
rs2888686	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2888687	0.86[ASN][1000 genomes]
rs2888688	0.86[ASN][1000 genomes]
rs28889269	0.86[ASN][1000 genomes]
rs34549882	0.85[ASN][1000 genomes]
rs41465145	0.90[ASN][1000 genomes]
rs4266560	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4618613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs62492377	0.90[ASN][1000 genomes]
rs62492378	0.90[ASN][1000 genomes]
rs62492379	0.90[ASN][1000 genomes]
rs62492382	0.90[ASN][1000 genomes]
rs66781963	0.82[ASN][1000 genomes]
rs67091546	1.00[ASN][1000 genomes]
rs73165560	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73165563	0.90[ASN][1000 genomes]
rs73165568	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73165572	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73165573	0.90[ASN][1000 genomes]
rs73167603	0.90[ASN][1000 genomes]
rs732416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs73468653	0.86[ASN][1000 genomes]
rs73468655	0.86[ASN][1000 genomes]
rs741063	1.00[JPT][hapmap]
rs758888	1.00[JPT][hapmap]
rs758892	0.86[ASN][1000 genomes]
rs758894	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs758895	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7781870	1.00[JPT][hapmap]
rs917806	1.00[JPT][hapmap]
rs917807	1.00[JPT][hapmap]
rs9918664	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1031497	chr7:150547113-150572570	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1029395	chr7:150547113-150574552	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1028241	chr7:150552873-150572570	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv32879	chr7:150553149-150573695	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2755450	chr7:150553352-150572352	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv608993	chr7:150553475-150560322	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv608994	chr7:150553475-150568581	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv608995	chr7:150553475-150572382	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv608996	chr7:150553605-150572382	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1020449	chr7:150553745-150572570	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv2761383	chr7:150553757-150560322	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11771771	AGAP3	cis	lymphoblastoid	seeQTL
rs11771771	ABP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150543200-150557600	Weak transcription	Right Atrium	heart
2	chr7:150549800-150558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:150553200-150558800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:150553600-150558800	Strong transcription	Rectal Mucosa Donor 31	rectum
5	chr7:150553600-150559400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr7:150553800-150558600	Strong transcription	Fetal Intestine Large	intestine
7	chr7:150555000-150561400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr7:150555400-150564000	Weak transcription	Liver	Liver
9	chr7:150556200-150557600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:150556200-150557600	Weak transcription	Colonic Mucosa	Colon
11	chr7:150556400-150557800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:150557400-150557800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:150557400-150557800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:150557400-150558200	ZNF genes & repeats	Spleen	Spleen
15	chr7:150557400-150558400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:150557400-150559800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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