Variant report

Variant	rs369251
Chromosome Location	chr2:40476117-40476118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1012311	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10197174	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10490209	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12612349	0.90[EUR][1000 genomes]
rs1617492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17025588	0.82[CHB][hapmap]
rs2540904	0.82[CHB][hapmap]
rs28421555	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs371492	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs376303	0.87[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs380590	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384673	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs390145	0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs392317	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs392953	0.87[CEU][hapmap];0.83[CHB][hapmap]
rs395987	0.82[CHB][hapmap]
rs404214	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs404226	0.83[CHB][hapmap]
rs407148	0.82[CHB][hapmap]
rs408263	0.82[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs426140	0.94[ASN][1000 genomes]
rs447136	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs450450	0.87[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs62150777	0.85[ASN][1000 genomes]

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	chr2:40470400-40481200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:40472200-40478600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:40472400-40478400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:40472600-40477800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:40472600-40487200	Weak transcription	HSMM	muscle
10	chr2:40472800-40478400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:40474000-40476600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:40474000-40477800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:40474400-40477200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:40474400-40478400	Weak transcription	Right Ventricle	heart
15	chr2:40474600-40478000	Weak transcription	Fetal Stomach	stomach
16	chr2:40475400-40476200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr2:40475400-40477200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:40475600-40477600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:40475800-40478000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:40475800-40478400	Weak transcription	Left Ventricle	heart
21	chr2:40475800-40478600	Enhancers	Hela-S3	cervix
22	chr2:40475800-40480000	Enhancers	Fetal Heart	heart
23	chr2:40475800-40485400	Weak transcription	Right Atrium	heart
24	chr2:40476000-40477800	Weak transcription	Fetal Intestine Small	intestine

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