Variant report

Variant	rs10177093
Chromosome Location	chr2:188213819-188213820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10931285	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883913	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12464003	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12469000	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12475425	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12477273	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479177	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619637	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12621307	0.84[EUR][1000 genomes]
rs12986579	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13414232	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1398060	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1511879	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1511884	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1528235	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2349313	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3771081	0.83[EUR][1000 genomes]
rs3771084	0.84[EUR][1000 genomes]
rs3771089	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3771091	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4399679	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6710629	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6759535	0.84[EUR][1000 genomes]
rs7597989	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs840610	0.82[AFR][1000 genomes]
rs870509	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870882	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9646807	0.87[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:27 , 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	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
6	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
8	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
9	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
10	chr2:188210800-188215400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
12	chr2:188211000-188214000	Weak transcription	Ovary	ovary
13	chr2:188212000-188215400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:188212200-188214000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:188212200-188222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:188213200-188214000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:188213400-188214000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:188213400-188214600	Enhancers	Fetal Lung	lung
19	chr2:188213800-188214000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:188213800-188214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:188213800-188214400	Enhancers	Adipose Nuclei	Adipose
22	chr2:188213800-188214800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:188213800-188214800	Genic enhancers	HUVEC	blood vessel
24	chr2:188213800-188214800	Enhancers	Osteobl	bone
25	chr2:188213800-188215000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:188213800-188215000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:188213800-188215600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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