Variant report

Variant	rs9871474
Chromosome Location	chr3:81766026-81766027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:81764741..81766324-chr3:81777899..81782087,3	K562	blood:
2	chr3:81764854..81768087-chr3:81770699..81773121,3	MCF-7	breast:
3	chr3:81765305..81767690-chr3:81791224..81793968,2	K562	blood:
4	chr3:81764741..81766324-chr3:81779093..81782087,2	K562	blood:

Variant related genes	Relation type
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10084705	0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs13314900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13322916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13324454	1.00[CHD][hapmap];0.88[MEX][hapmap]
rs13326721	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2680271	0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs2680276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28624341	0.84[ASN][1000 genomes]
rs28630448	0.81[EUR][1000 genomes]
rs28637864	0.81[EUR][1000 genomes]
rs28758947	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3772886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3772901	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772908	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3772911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3821550	0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs3849573	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62265453	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62267086	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62267088	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6776410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7623056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9809754	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9813155	0.82[EUR][1000 genomes]
rs9813371	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs9817982	0.81[EUR][1000 genomes]
rs9821350	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9821673	0.80[CEU][hapmap];0.92[CHD][hapmap];0.88[MEX][hapmap]
rs9824576	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9847076	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9847606	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9849214	0.80[CEU][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap]
rs9851559	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9863136	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9863396	0.80[CEU][hapmap];0.92[CHD][hapmap];0.88[MEX][hapmap]
rs9866225	0.80[CEU][hapmap]
rs9868223	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9874943	0.92[CHD][hapmap];0.88[MEX][hapmap]
rs9881516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9883954	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[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	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81726800-81766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:81727200-81792200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:81732000-81766400	Weak transcription	HSMMtube	muscle
4	chr3:81744200-81772800	Weak transcription	Right Ventricle	heart
5	chr3:81749200-81772800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:81750200-81772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:81755800-81772800	Weak transcription	Right Atrium	heart
8	chr3:81755800-81781000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:81760800-81772200	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:81761600-81766200	Weak transcription	Stomach Mucosa	stomach
11	chr3:81762600-81772200	Weak transcription	HUVEC	blood vessel
12	chr3:81763200-81775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:81764600-81767600	Weak transcription	Dnd41	blood
14	chr3:81764800-81766200	Enhancers	Fetal Kidney	kidney
15	chr3:81765600-81768000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:81765800-81766200	Enhancers	HepG2	liver
17	chr3:81765800-81767000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:81766000-81766200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:81766000-81766200	Enhancers	Fetal Heart	heart
20	chr3:81766000-81766200	Enhancers	Gastric	stomach
21	chr3:81766000-81766200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:81766000-81766200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr3:81766000-81766200	Flanking Active TSS	Hela-S3	cervix
24	chr3:81766000-81766200	Enhancers	K562	blood
25	chr3:81766000-81766400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr3:81766000-81766600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:81766000-81766600	Enhancers	Aorta	Aorta
28	chr3:81766000-81766600	Enhancers	Left Ventricle	heart
29	chr3:81766000-81766800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:81766000-81766800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:81766000-81766800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:81766000-81766800	Enhancers	Adipose Nuclei	Adipose
33	chr3:81766000-81766800	Enhancers	HSMM	muscle
34	chr3:81766000-81766800	Enhancers	NHDF-Ad	bronchial
35	chr3:81766000-81766800	Enhancers	NHLF	lung
36	chr3:81766000-81766800	Enhancers	Osteobl	bone
37	chr3:81766000-81767000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:81766000-81767000	Flanking Active TSS	Liver	Liver
39	chr3:81766000-81767000	Enhancers	Fetal Intestine Small	intestine
40	chr3:81766000-81767000	Flanking Active TSS	A549	lung
41	chr3:81766000-81767400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:81766000-81767400	Enhancers	Fetal Intestine Large	intestine
43	chr3:81766000-81767800	Enhancers	Psoas Muscle	Psoas
44	chr3:81766000-81768000	Enhancers	Pancreas	Pancrea

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