Variant report

Variant	rs10771478
Chromosome Location	chr12:29228284-29228285
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10743637	0.86[EUR][1000 genomes]
rs10743641	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771470	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10771471	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10771473	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771474	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771475	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771477	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843303	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10843304	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843305	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843306	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843307	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843308	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1344854	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1344855	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2117992	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4141946	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4471475	0.86[EUR][1000 genomes]
rs4930848	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6487744	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7955393	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9300183	0.84[EUR][1000 genomes]
rs9651838	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29226400-29228600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:29226600-29233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:29226800-29229600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:29227000-29229400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:29227200-29229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29227400-29228800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:29227600-29228400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:29227800-29228400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:29227800-29228600	Enhancers	Osteobl	bone
10	chr12:29228000-29228400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:29228000-29228400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:29228000-29233800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29228200-29228400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:29228200-29228400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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