Variant report

Variant	rs12617111
Chromosome Location	chr2:189884764-189884765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10165260	0.82[JPT][hapmap]
rs10176287	0.94[ASN][1000 genomes]
rs10176565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10194618	0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs11885919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28486035	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28758810	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3923384	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4128538	0.81[JPT][hapmap]
rs4666770	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs6434308	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434309	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434322	0.81[JPT][hapmap]
rs6717231	0.93[ASN][1000 genomes]
rs6760780	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7420715	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs7422861	0.93[ASN][1000 genomes]
rs7422977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423494	0.89[ASN][1000 genomes]
rs7426169	0.83[YRI][hapmap]
rs7562299	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs7565451	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573709	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576472	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579312	0.89[AFR][1000 genomes]
rs7587776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7591905	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7592439	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:189877400-189886200	Weak transcription	Adipose Nuclei	Adipose
4	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:189877800-189885200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:189878000-189886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:189879400-189885200	Weak transcription	Pancreas	Pancrea
8	chr2:189879400-189886200	Weak transcription	Aorta	Aorta
9	chr2:189880200-189895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189880800-189885000	Weak transcription	Fetal Stomach	stomach
11	chr2:189881200-189895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:189882600-189885600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:189882800-189885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:189882800-189886600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:189883400-189885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:189883600-189885000	Enhancers	NHLF	lung
17	chr2:189883600-189887600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:189883800-189885200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:189884000-189886600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:189884200-189886600	Weak transcription	NH-A	brain
21	chr2:189884400-189885200	Enhancers	HSMMtube	muscle
22	chr2:189884400-189886200	Weak transcription	Osteobl	bone
23	chr2:189884400-189886600	Weak transcription	Ovary	ovary
24	chr2:189884600-189885000	Weak transcription	HSMM	muscle
25	chr2:189884600-189885800	Weak transcription	NHDF-Ad	bronchial
26	chr2:189884600-189886800	Weak transcription	Fetal Lung	lung

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