Variant report

Variant	rs11594322
Chromosome Location	chr10:4956083-4956084
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12774134	1.00[ASN][1000 genomes]
rs12777893	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34072915	0.82[ASN][1000 genomes]
rs34373625	0.82[ASN][1000 genomes]
rs34420413	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34702521	0.82[ASN][1000 genomes]
rs34724070	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35016422	0.82[ASN][1000 genomes]
rs35056421	0.82[ASN][1000 genomes]
rs35288270	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464459	1.00[ASN][1000 genomes]
rs35468197	0.82[ASN][1000 genomes]
rs36000835	0.84[AFR][1000 genomes]
rs36096746	0.82[ASN][1000 genomes]
rs4332428	1.00[ASN][1000 genomes]
rs4341440	1.00[ASN][1000 genomes]
rs4382804	0.82[ASN][1000 genomes]
rs4397735	1.00[ASN][1000 genomes]
rs4418707	0.82[ASN][1000 genomes]
rs5011018	0.82[ASN][1000 genomes]
rs5011019	0.82[ASN][1000 genomes]
rs55810378	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59428599	0.82[ASN][1000 genomes]
rs66624122	0.82[ASN][1000 genomes]
rs66885174	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs66923674	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67466576	0.82[ASN][1000 genomes]
rs68005215	0.82[ASN][1000 genomes]
rs71477878	0.82[ASN][1000 genomes]
rs7921185	0.82[ASN][1000 genomes]
rs7922153	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1042940	chr10:4916614-4974581	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv894793	chr10:4935482-4988818	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11594322	AKR1C1	cis	Whole Blood	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4918400-4968000	Weak transcription	Primary T cells from cord blood	blood
2	chr10:4944800-4956400	Weak transcription	A549	lung
3	chr10:4945200-4962200	Weak transcription	Ovary	ovary
4	chr10:4946000-4973400	Weak transcription	Pancreas	Pancrea
5	chr10:4950600-4960400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:4952000-4964400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:4952200-4966600	Weak transcription	Left Ventricle	heart
8	chr10:4952200-4967800	Weak transcription	Right Ventricle	heart
9	chr10:4953600-4956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:4953800-4958000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:4953800-4960200	Weak transcription	HMEC	breast
12	chr10:4954000-4958000	Weak transcription	NHEK	skin
13	chr10:4955800-4956600	Flanking Active TSS	Liver	Liver

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