Variant report

Variant	rs4591284
Chromosome Location	chr2:189496277-189496278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189495551..189497339-chr2:189503707..189506173,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10153871	1.00[ASN][1000 genomes]
rs10172178	1.00[ASN][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs10203054	1.00[ASN][1000 genomes]
rs10804021	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931363	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10931369	0.95[EUR][1000 genomes]
rs10931374	0.81[AMR][1000 genomes]
rs10931376	0.89[EUR][1000 genomes]
rs11676859	0.87[EUR][1000 genomes]
rs11683089	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683183	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686702	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11695316	1.00[JPT][hapmap]
rs11889220	0.96[EUR][1000 genomes]
rs11889402	0.82[EUR][1000 genomes]
rs12463744	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12475894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12476413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12988921	0.90[EUR][1000 genomes]
rs13011602	0.89[EUR][1000 genomes]
rs13012993	0.83[EUR][1000 genomes]
rs13025659	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13386959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13392850	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13393057	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13396968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13397653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13412448	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13414327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13418031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354902	1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1354904	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs1354908	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354910	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1395868	0.89[EUR][1000 genomes]
rs1507551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507560	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1507561	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567184	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs1580993	0.95[EUR][1000 genomes]
rs1807235	1.00[ASN][1000 genomes]
rs1911602	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911603	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2350903	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882532	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3935690	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4146570	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146571	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4453658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4577225	0.87[ASN][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6707212	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6708451	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709557	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6744275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6756504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7419798	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7420808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7423554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7582643	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7587596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7596299	0.96[EUR][1000 genomes]
rs7602180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs781261	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs781280	0.86[CEU][hapmap]
rs8273	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs955813	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189492000-189496600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189493400-189496400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:189493800-189496400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:189494000-189496400	Enhancers	Fetal Stomach	stomach
5	chr2:189494200-189496600	Enhancers	Ovary	ovary
6	chr2:189494400-189497000	Enhancers	Fetal Lung	lung
7	chr2:189494600-189497200	Enhancers	Colon Smooth Muscle	Colon
8	chr2:189495400-189496400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189495400-189496400	Weak transcription	NHDF-Ad	bronchial
10	chr2:189495800-189496400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:189496000-189496600	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:189496200-189496400	Enhancers	Osteobl	bone

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