Variant report

Variant	rs2373794
Chromosome Location	chr2:40354477-40354478
allele	C/G/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:26)

rs_ID	r²[population]
rs10205502	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10208777	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10221571	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11688023	0.92[CEU][hapmap]
rs12712682	0.97[ASN][1000 genomes]
rs2110923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2110924	0.95[ASN][1000 genomes]
rs2110925	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2110927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2160365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs417614	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs429648	0.81[JPT][hapmap]
rs432188	0.81[JPT][hapmap]
rs435923	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs444999	0.95[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs448517	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4614975	0.96[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4952490	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4952491	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6739058	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6746919	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6755509	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7572256	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs759444	0.81[JPT][hapmap]
rs985991	1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873905	chr2:40341847-40364895	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv873906	chr2:40341847-40385045	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873907	chr2:40349094-40381369	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1005758	chr2:40349403-40381369	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv873908	chr2:40351453-40371095	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
2	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:40334600-40354800	Weak transcription	Fetal Brain Female	brain
4	chr2:40341600-40357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:40342800-40357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:40343000-40354800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:40347000-40355800	Enhancers	Fetal Thymus	thymus
8	chr2:40349800-40358200	Enhancers	Osteobl	bone
9	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:40350200-40356400	Enhancers	NHLF	lung
11	chr2:40350200-40358000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:40350800-40356800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:40351000-40358200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:40351200-40355400	Weak transcription	Ovary	ovary
15	chr2:40351200-40358000	Enhancers	NHDF-Ad	bronchial
16	chr2:40351400-40355000	Weak transcription	Fetal Brain Male	brain
17	chr2:40351400-40355600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:40351400-40357000	Weak transcription	Aorta	Aorta
19	chr2:40351600-40354600	Genic enhancers	HSMM	muscle
20	chr2:40351600-40354800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:40351600-40354800	Weak transcription	Right Atrium	heart
22	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:40351800-40354600	Weak transcription	Fetal Stomach	stomach
24	chr2:40351800-40354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:40352200-40354600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:40352400-40356000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:40352800-40358000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:40353200-40355200	Enhancers	Dnd41	blood
29	chr2:40353400-40354600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:40353600-40355200	Enhancers	Thymus	Thymus
31	chr2:40353800-40354800	Enhancers	Primary T cells from cord blood	blood
32	chr2:40354000-40358600	Enhancers	Colon Smooth Muscle	Colon
33	chr2:40354200-40354600	Weak transcription	Left Ventricle	heart
34	chr2:40354200-40356400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:40354400-40355000	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:40354400-40355200	Enhancers	NH-A	brain
37	chr2:40354400-40355400	Enhancers	HSMMtube	muscle
38	chr2:40354400-40355800	Enhancers	Fetal Lung	lung
39	chr2:40354400-40355800	Enhancers	Fetal Muscle Leg	muscle
40	chr2:40354400-40357400	Genic enhancers	Fetal Heart	heart
41	chr2:40354400-40358800	Enhancers	Rectal Smooth Muscle	rectum

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