Variant report

Variant	rs991742
Chromosome Location	chr2:46999577-46999578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1009230	0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs1009231	0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs10167561	0.88[ASN][1000 genomes]
rs10168342	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11125087	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12466948	0.87[ASN][1000 genomes]
rs12475080	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1456009	0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1471056	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1471057	0.81[ASN][1000 genomes]
rs1809216	0.87[ASN][1000 genomes]
rs1813505	0.85[ASN][1000 genomes]
rs1867819	0.95[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs2045291	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2061182	0.82[ASN][1000 genomes]
rs34505088	0.81[AFR][1000 genomes]
rs3738890	0.80[ASN][1000 genomes]
rs3768720	0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814039	0.82[ASN][1000 genomes]
rs4361172	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4522653	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952844	0.83[EUR][1000 genomes]
rs4953414	0.82[ASN][1000 genomes]
rs4953415	0.88[ASN][1000 genomes]
rs4953418	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6544913	0.86[JPT][hapmap]
rs6544917	0.82[ASN][1000 genomes]
rs6544918	0.90[ASN][1000 genomes]
rs6544919	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6544921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705847	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6718658	0.83[YRI][hapmap]
rs6718677	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6721122	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6726345	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6727737	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs6727934	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6728559	0.81[AFR][1000 genomes]
rs6730949	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6740539	0.85[YRI][hapmap]
rs6741706	0.88[ASN][1000 genomes]
rs6746471	0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6748938	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7568007	0.84[ASN][1000 genomes]
rs7570376	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7580649	0.86[ASN][1000 genomes]
rs897528	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs958726	0.83[ASN][1000 genomes]
rs991559	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
5	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:46998200-47000800	Enhancers	HepG2	liver
9	chr2:46998200-47001800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:46998400-47000200	Enhancers	A549	lung
11	chr2:46998800-47001000	Weak transcription	NHDF-Ad	bronchial
12	chr2:46998800-47001800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:46998800-47002000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:46998800-47002400	Weak transcription	Ovary	ovary
15	chr2:46998800-47005600	Weak transcription	Fetal Brain Male	brain
16	chr2:46999000-46999800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:46999000-47001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:46999000-47001000	Weak transcription	Osteobl	bone
19	chr2:46999000-47002200	Weak transcription	NHLF	lung
20	chr2:46999000-47002600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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