Variant report

Variant	rs11050000
Chromosome Location	chr12:29196350-29196351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10843302	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843314	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10843315	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11049982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11049984	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11049993	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11049994	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11049996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050002	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050016	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11050027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050100	1.00[AMR][1000 genomes]
rs1122176	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12228134	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12313069	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16933990	1.00[AMR][1000 genomes]
rs17706344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17707217	1.00[AMR][1000 genomes]
rs67048928	1.00[AMR][1000 genomes]
rs73061763	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073790	1.00[AMR][1000 genomes]
rs73074110	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73074119	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952775	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972564	0.94[EUR][1000 genomes];0.96[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	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
5	esv1802947	chr12:29194445-29197813	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29191400-29197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:29191800-29197000	Enhancers	NHLF	lung
3	chr12:29194400-29196400	Enhancers	HSMM	muscle
4	chr12:29194400-29197000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:29194400-29198000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:29195200-29197200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:29195200-29197200	Enhancers	Osteobl	bone
8	chr12:29195400-29197200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:29195400-29198600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:29195600-29196400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:29195600-29196400	Enhancers	Fetal Intestine Small	intestine
12	chr12:29195600-29196600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:29195600-29196600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:29195600-29197600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:29195600-29198000	Enhancers	NHDF-Ad	bronchial
16	chr12:29196000-29196400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:29196000-29197000	Enhancers	Brain Substantia Nigra	brain
18	chr12:29196000-29197000	Enhancers	Fetal Stomach	stomach

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