Variant report

Variant	rs10930999
Chromosome Location	chr2:183129242-183129243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10169895	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs10930993	0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs10930995	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs10930996	0.82[ASN][1000 genomes]
rs10930997	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs10930998	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11681840	0.82[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs11687469	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12474371	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs12475647	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs12617420	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13400054	0.83[JPT][hapmap]
rs13420620	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs1481630	0.83[ASN][1000 genomes]
rs1594615	0.82[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs16822886	0.82[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs16822889	0.82[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs16822915	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2195878	0.89[CHD][hapmap]
rs2368277	0.81[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs2568671	0.82[ASN][1000 genomes]
rs2568675	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs2623438	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs3769800	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs3769803	0.83[JPT][hapmap]
rs3820963	0.82[JPT][hapmap]
rs4666827	0.86[ASN][1000 genomes]
rs4666828	0.88[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.86[ASN][1000 genomes]
rs62190507	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62190508	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721984	0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs724851	0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap]
rs7567112	0.82[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs7583421	0.88[JPT][hapmap]
rs9653242	0.85[JPT][hapmap]
rs9784041	0.81[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183106400-183138400	Weak transcription	Aorta	Aorta
2	chr2:183113600-183138800	Weak transcription	Fetal Stomach	stomach
3	chr2:183124800-183130400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183125400-183130000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:183129000-183131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183129200-183131400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:183129200-183133800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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