Variant report

Variant	rs12276948
Chromosome Location	chr11:5577257-5577258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:5269002..5271687-chr11:5576033..5577884,2	K562	blood:
2	chr11:5575874..5577809-chr11:5596077..5598806,2	K562	blood:
3	11:5250847-5268367..11:5571131-5578892	K562	blood:
4	chr11:5527022..5529491-chr11:5577103..5579456,2	K562	blood:

Variant related genes	Relation type
ENSG00000213934	Chromatin interaction
ENSG00000229988	Chromatin interaction
ENSG00000223609	Chromatin interaction
ENSG00000260629	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10742718	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742719	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742720	0.86[ASN][1000 genomes]
rs10742721	0.86[ASN][1000 genomes]
rs10742722	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742723	0.86[ASN][1000 genomes]
rs10742725	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10742726	0.86[ASN][1000 genomes]
rs10742729	0.86[ASN][1000 genomes]
rs10742731	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769074	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769087	0.86[ASN][1000 genomes]
rs10769088	0.86[ASN][1000 genomes]
rs10769089	0.86[ASN][1000 genomes]
rs10769092	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769098	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10769101	0.86[ASN][1000 genomes]
rs10838341	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10838351	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10838362	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10838367	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10838375	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10838377	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10838378	0.86[ASN][1000 genomes]
rs10838379	0.86[ASN][1000 genomes]
rs11038193	0.86[ASN][1000 genomes]
rs12270701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281949	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12289789	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17372123	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2163946	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2341432	1.00[JPT][hapmap]
rs2341434	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3910245	1.00[JPT][hapmap]
rs4547126	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4604918	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4608110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4910572	0.86[ASN][1000 genomes]
rs4910821	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4910822	0.86[ASN][1000 genomes]
rs61892460	1.00[ASN][1000 genomes]
rs7927448	0.86[ASN][1000 genomes]
rs7927677	0.86[ASN][1000 genomes]
rs7929659	0.86[ASN][1000 genomes]
rs7930588	0.86[ASN][1000 genomes]
rs7930681	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7931917	0.86[ASN][1000 genomes]
rs7942070	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs892336	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs967664	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs967665	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs967666	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9804637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9804698	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv896940	chr11:5535007-5582430	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5563600-5582400	Weak transcription	Aorta	Aorta
2	chr11:5572400-5577800	Weak transcription	K562	blood

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