Variant report

Variant	rs1012311
Chromosome Location	chr2:40475022-40475023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10197174	0.94[EUR][1000 genomes]
rs10490209	0.91[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12612349	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1617492	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1641454	0.82[EUR][1000 genomes]
rs17025367	0.81[CEU][hapmap]
rs17025588	0.86[GIH][hapmap]
rs17025712	0.80[GIH][hapmap]
rs2072530	0.81[CEU][hapmap]
rs2540904	0.80[GIH][hapmap]
rs28421555	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs369251	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs376535	0.80[GIH][hapmap]
rs380590	0.91[CEU][hapmap];0.98[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs381610	0.80[GIH][hapmap]
rs384673	0.86[EUR][1000 genomes]
rs390145	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs392317	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs404214	0.91[GIH][hapmap]
rs407148	0.84[GIH][hapmap]
rs408263	1.00[CEU][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs447136	0.91[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv873913	chr2:40469705-40485074	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40468000-40476600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:40469000-40475200	Enhancers	Fetal Heart	heart
6	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:40472200-40478600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:40472400-40475800	Weak transcription	Hela-S3	cervix
9	chr2:40472400-40478400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:40472600-40475400	Weak transcription	Right Atrium	heart
11	chr2:40472600-40477800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:40472600-40487200	Weak transcription	HSMM	muscle
13	chr2:40472800-40478400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:40474000-40475400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:40474000-40476600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:40474000-40477800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:40474200-40475600	Enhancers	Stomach Smooth Muscle	stomach
18	chr2:40474400-40477200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:40474400-40478400	Weak transcription	Right Ventricle	heart
20	chr2:40474600-40475400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:40474600-40478000	Weak transcription	Fetal Stomach	stomach
22	chr2:40474800-40475200	Weak transcription	Left Ventricle	heart
23	chr2:40474800-40475400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:40475000-40475800	Enhancers	Fetal Intestine Large	intestine

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