Variant report

Variant	rs759384
Chromosome Location	chr2:40553189-40553190
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11888123	1.00[CEU][hapmap];0.98[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs1477001	0.91[ASN][1000 genomes]
rs1990608	0.96[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2110744	0.96[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160236	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2160237	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4952402	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6544318	0.91[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs6748881	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs998260	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40542800-40556400	Weak transcription	Fetal Stomach	stomach
3	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40545200-40559200	Weak transcription	HSMM	muscle
5	chr2:40545400-40553200	Weak transcription	Right Ventricle	heart
6	chr2:40545600-40556000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:40546600-40555600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:40549200-40559800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:40549400-40553600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40549400-40559000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:40549400-40565200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:40549600-40554000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:40549800-40556200	Weak transcription	NHDF-Ad	bronchial
14	chr2:40550400-40560400	Enhancers	Fetal Heart	heart
15	chr2:40552000-40553400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:40552000-40553400	Enhancers	Fetal Thymus	thymus
17	chr2:40552000-40553400	Enhancers	Left Ventricle	heart
18	chr2:40552200-40553400	Enhancers	Thymus	Thymus
19	chr2:40552200-40556200	Weak transcription	Right Atrium	heart
20	chr2:40552600-40555600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:40552600-40556600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:40552600-40556600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:40552600-40558800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:40552800-40553600	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney

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