Variant report

Variant	rs10261591
Chromosome Location	chr7:110790007-110790008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10257075	0.91[CEU][hapmap]
rs10261004	0.84[MEX][hapmap]
rs10262354	0.92[CEU][hapmap];0.84[MEX][hapmap]
rs10270683	0.81[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap]
rs10273636	0.82[JPT][hapmap]
rs10282461	0.82[ASN][1000 genomes]
rs1034697	0.81[ASN][1000 genomes]
rs1034698	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10487301	0.86[JPT][hapmap]
rs10487304	0.92[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953682	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10953683	0.86[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11773752	0.86[JPT][hapmap]
rs11976211	0.92[CEU][hapmap]
rs11981564	0.89[ASN][1000 genomes]
rs11981589	0.89[ASN][1000 genomes]
rs12669471	1.00[JPT][hapmap]
rs12671792	0.86[JPT][hapmap]
rs12674347	0.92[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap]
rs12674439	0.86[JPT][hapmap]
rs12705754	0.86[JPT][hapmap]
rs1476560	0.85[JPT][hapmap]
rs17158299	0.86[JPT][hapmap];0.84[MEX][hapmap]
rs17158333	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs2041659	0.86[JPT][hapmap]
rs2107145	0.83[ASW][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2107146	0.86[JPT][hapmap]
rs2107147	0.84[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap]
rs2110320	0.86[JPT][hapmap]
rs214852	0.82[JPT][hapmap]
rs214884	0.85[JPT][hapmap]
rs214885	0.85[JPT][hapmap]
rs214888	0.85[JPT][hapmap]
rs214890	1.00[JPT][hapmap]
rs214891	0.85[JPT][hapmap]
rs214892	1.00[JPT][hapmap]
rs214893	1.00[JPT][hapmap]
rs214896	0.86[JPT][hapmap];0.84[MEX][hapmap]
rs214897	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2189322	0.84[ASN][1000 genomes]
rs2189323	0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.83[TSI][hapmap]
rs2189324	0.85[JPT][hapmap]
rs2189325	0.85[JPT][hapmap]
rs2214447	0.86[JPT][hapmap]
rs3823926	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4727755	0.86[JPT][hapmap]
rs4730477	1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730478	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4730479	0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[ASN][1000 genomes]
rs4730481	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.89[ASN][1000 genomes]
rs4730482	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs4730484	0.85[JPT][hapmap]
rs56178319	0.88[EUR][1000 genomes]
rs6466373	0.92[CEU][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6466375	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6979545	0.86[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs6979841	0.94[ASW][hapmap];0.81[CEU][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.80[LWK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs757219	0.92[CEU][hapmap]
rs769129	0.87[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs769130	0.82[CHD][hapmap];1.00[MEX][hapmap]
rs7778044	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs7781676	0.86[JPT][hapmap]
rs7781715	0.86[JPT][hapmap]
rs7789480	0.86[JPT][hapmap]
rs7800862	0.92[CEU][hapmap];0.84[MEX][hapmap]
rs7811143	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs964501	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531434	chr7:110310931-110839892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3506497	chr7:110484691-111091738	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3506498	chr7:110484750-111091689	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1031546	chr7:110549137-110978256	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv817555	chr7:110564801-110990927	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1033286	chr7:110588021-110990928	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv539063	chr7:110588021-110990928	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv931978	chr7:110607590-111092490	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025987	chr7:110609568-111258501	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1024477	chr7:110660006-110944477	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv608154	chr7:110688993-110945501	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv608155	chr7:110722482-111351512	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1035119	chr7:110745019-111258501	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1033647	chr7:110766750-110923436	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1016762	chr7:110769068-110883479	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1029168	chr7:110771561-110818458	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv888976	chr7:110773099-110959881	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv464674	chr7:110776037-110861883	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv608156	chr7:110776037-110861883	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1029100	chr7:110782696-110899748	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1025697	chr7:110782696-110901586	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1022943	chr7:110786548-111092491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv539064	chr7:110786548-111092491	Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	esv2752141	chr7:110787970-111113591	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10261591	IMMP2L	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110787800-110790400	Weak transcription	Aorta	Aorta

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