Variant report

Variant	rs4667257
Chromosome Location	chr2:189880810-189880811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13306270	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13306272	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs1516447	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17292943	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs17358825	0.92[CHB][hapmap]
rs1800255	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs1878201	0.92[CHB][hapmap]
rs2203602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351420	1.00[CHB][hapmap]
rs3736487	0.92[CHB][hapmap];0.90[CHD][hapmap]
rs3736489	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs3736490	0.92[CHB][hapmap]
rs3768660	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4666768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667258	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62181744	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62181745	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6715268	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757347	0.93[CEU][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7596514	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189871600-189884600	Weak transcription	Fetal Kidney	kidney
2	chr2:189873200-189885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:189876000-189884400	Weak transcription	HSMMtube	muscle
4	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:189876400-189883400	Weak transcription	NH-A	brain
6	chr2:189877400-189886200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:189877800-189885200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:189878000-189882600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:189878000-189883600	Weak transcription	HSMM	muscle
11	chr2:189878000-189886400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:189878200-189882400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:189879000-189881000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:189879400-189881000	Weak transcription	Osteobl	bone
15	chr2:189879400-189881200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:189879400-189883800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:189879400-189884000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:189879400-189885200	Weak transcription	Pancreas	Pancrea
19	chr2:189879400-189886200	Weak transcription	Aorta	Aorta
20	chr2:189879600-189881000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:189879600-189881200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:189879800-189883600	Weak transcription	NHLF	lung
23	chr2:189880000-189882800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:189880200-189895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:189880400-189882600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:189880400-189882800	Weak transcription	NHDF-Ad	bronchial
27	chr2:189880400-189884000	Weak transcription	Ovary	ovary
28	chr2:189880400-189884200	Weak transcription	Fetal Lung	lung
29	chr2:189880800-189881600	Enhancers	HUVEC	blood vessel
30	chr2:189880800-189883600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:189880800-189885000	Weak transcription	Fetal Stomach	stomach

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