Variant report

Variant	rs10931285
Chromosome Location	chr2:188211789-188211790
allele	A/T
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:35)

rs_ID	r²[population]
rs10177093	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931283	0.80[CHB][hapmap]
rs10931284	0.80[CHB][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs11883913	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12464003	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469000	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12475425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12477273	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479177	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619637	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621307	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs12986579	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13414232	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1398060	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1511879	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511884	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1528235	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17463994	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1912850	0.81[EUR][1000 genomes]
rs2349313	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2882203	0.82[CEU][hapmap]
rs3213739	0.85[CEU][hapmap]
rs3771076	0.83[CEU][hapmap]
rs3771081	0.89[CEU][hapmap]
rs3771084	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs3771089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3771091	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4399679	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6710629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6759535	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs7597989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7601254	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs870509	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870882	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9646807	0.85[EUR][1000 genomes];0.90[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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
5	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
6	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:188209000-188212000	Strong transcription	Primary hematopoietic stem cells	blood
8	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
9	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:188209400-188213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
12	chr2:188209800-188212200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
14	chr2:188210000-188212600	Weak transcription	Psoas Muscle	Psoas
15	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
18	chr2:188210800-188215400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
20	chr2:188211000-188213200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:188211000-188213800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:188211000-188214000	Weak transcription	Ovary	ovary
23	chr2:188211400-188213800	Weak transcription	Primary monocytes fromperipheralblood	blood

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