Variant report

Variant	rs1809216
Chromosome Location	chr2:46991997-46991998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:
2	chr2:46990483..46993440-chr2:46995579..46997950,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10168342	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11125087	0.81[ASN][1000 genomes]
rs12466948	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475080	0.87[ASN][1000 genomes]
rs1456009	0.91[CHB][hapmap]
rs1471056	0.80[ASN][1000 genomes]
rs1471057	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1867819	0.83[CHB][hapmap]
rs2045291	0.82[ASN][1000 genomes]
rs3768720	0.83[ASN][1000 genomes]
rs4361172	0.86[ASN][1000 genomes]
rs4522653	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs4953414	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4953418	0.86[ASN][1000 genomes]
rs6544913	0.88[CEU][hapmap];0.91[CHB][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6544917	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6544921	0.87[ASN][1000 genomes]
rs6705847	0.86[ASN][1000 genomes]
rs6718677	0.83[ASN][1000 genomes]
rs6721122	0.86[ASN][1000 genomes]
rs6726345	0.84[ASN][1000 genomes]
rs6727737	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6730949	0.84[ASN][1000 genomes]
rs6746471	0.83[CHB][hapmap]
rs6748938	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7568007	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7570376	0.80[ASN][1000 genomes]
rs897528	0.85[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap]
rs897529	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs991559	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs991742	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
3	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
4	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:46987000-46993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:46987200-46995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:46987200-46996200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:46987200-46997800	Weak transcription	Liver	Liver
10	chr2:46987400-46992800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:46987400-46992800	Weak transcription	HSMMtube	muscle
12	chr2:46987400-46993200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:46987400-46993400	Weak transcription	Pancreas	Pancrea
14	chr2:46987400-46997000	Weak transcription	Fetal Lung	lung
15	chr2:46987400-46997400	Weak transcription	Fetal Stomach	stomach
16	chr2:46987400-46997600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:46987400-46997600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
20	chr2:46987600-46993800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:46987600-46995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:46987600-46997000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:46987600-46997200	Weak transcription	HSMM	muscle
24	chr2:46987600-46997400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:46987800-46997200	Weak transcription	NH-A	brain
27	chr2:46988200-46993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:46988200-46993800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:46988200-46997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:46989400-46997200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:46990400-46992200	Genic enhancers	Osteobl	bone
32	chr2:46991000-46992000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:46991000-46992000	Strong transcription	Primary B cells from cord blood	blood
34	chr2:46991000-46992000	Strong transcription	A549	lung
35	chr2:46991000-46992200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:46991000-46992200	Genic enhancers	NHDF-Ad	bronchial
37	chr2:46991200-46992200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:46991200-46995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:46991400-46992400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:46991400-46992600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:46991400-46993600	Weak transcription	HepG2	liver
42	chr2:46991600-46992200	Strong transcription	NHLF	lung
43	chr2:46991600-46997200	Weak transcription	Ovary	ovary

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