Variant report

Variant	rs3791246
Chromosome Location	chr2:183900752-183900753
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183899689..183901875-chr2:183913168..183915328,2	K562	blood:
2	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
3	chr2:183900058..183902325-chr2:183948549..183950456,2	K562	blood:
4	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
5	chr2:183871994..183874914-chr2:183897971..183902484,5	MCF-7	breast:
6	chr2:183899076..183901468-chr2:183926416..183929054,2	MCF-7	breast:
7	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1022337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10931052	1.00[JPT][hapmap]
rs10931053	1.00[JPT][hapmap]
rs11889337	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11899644	1.00[JPT][hapmap]
rs12611998	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612383	1.00[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12617567	1.00[JPT][hapmap]
rs12618652	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12991342	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992059	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12992669	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12994001	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs13000008	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13009031	0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs13010139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16823896	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823931	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16823936	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2138486	0.87[CEU][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs2368351	1.00[JPT][hapmap]
rs2675049	1.00[JPT][hapmap]
rs2675051	1.00[JPT][hapmap]
rs2705741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs34192739	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34254952	0.92[EUR][1000 genomes]
rs34644467	0.87[EUR][1000 genomes]
rs34873881	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34930236	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35175570	0.84[EUR][1000 genomes]
rs35310711	0.92[EUR][1000 genomes]
rs35318802	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35368327	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35488919	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35566709	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35628169	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35720425	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35971883	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4414644	1.00[JPT][hapmap]
rs4666603	0.91[ASN][1000 genomes]
rs4666604	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4666876	1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666881	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4666882	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55739115	0.97[EUR][1000 genomes]
rs6434001	1.00[JPT][hapmap]
rs66829551	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6714190	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6718462	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs6726085	0.87[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6730183	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732015	1.00[JPT][hapmap];0.85[AFR][1000 genomes]
rs6735651	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6745341	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761953	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71427864	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042165	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73980539	0.95[EUR][1000 genomes]
rs7566668	1.00[JPT][hapmap]
rs7589630	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7599002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7607857	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9288088	1.00[JPT][hapmap]
rs9333280	1.00[JPT][hapmap]
rs9789450	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183846000-183902000	Weak transcription	Lung	lung
2	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
3	chr2:183880200-183900800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:183889800-183902000	Weak transcription	Gastric	stomach
5	chr2:183891400-183901800	Weak transcription	Small Intestine	intestine
6	chr2:183894600-183902000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:183894600-183902000	Weak transcription	Pancreas	Pancrea
8	chr2:183895400-183901200	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:183897800-183900800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:183897800-183901200	Weak transcription	Left Ventricle	heart
11	chr2:183897800-183901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:183898000-183901000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:183898000-183901200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:183898800-183900800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:183898800-183901400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:183899200-183901000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:183899400-183900800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:183899400-183900800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:183899400-183900800	Enhancers	Fetal Intestine Small	intestine
20	chr2:183899400-183901000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:183899400-183901000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr2:183899400-183901200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:183899400-183901400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr2:183899600-183901200	Enhancers	Ovary	ovary
25	chr2:183899600-183901400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:183899600-183901400	Flanking Active TSS	NH-A	brain
27	chr2:183899600-183901600	Flanking Active TSS	Osteobl	bone
28	chr2:183899600-183903800	Active TSS	Brain Angular Gyrus	brain
29	chr2:183899600-183904200	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:183899800-183901000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:183899800-183901000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:183899800-183901200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:183899800-183901800	Flanking Active TSS	HUVEC	blood vessel
34	chr2:183899800-183903400	Active TSS	H1 Cell Line	embryonic stem cell
35	chr2:183899800-183903600	Active TSS	K562	blood
36	chr2:183899800-183903800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:183899800-183904000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:183900000-183901000	Flanking Active TSS	A549	lung
39	chr2:183900000-183901200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:183900000-183901600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr2:183900000-183901800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:183900000-183902200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:183900000-183903600	Active TSS	HMEC	breast
44	chr2:183900200-183900800	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr2:183900200-183900800	Enhancers	Fetal Kidney	kidney
46	chr2:183900200-183900800	Flanking Active TSS	NHEK	skin
47	chr2:183900200-183901000	Flanking Active TSS	Fetal Heart	heart
48	chr2:183900200-183901000	Flanking Active TSS	HepG2	liver
49	chr2:183900200-183901200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:183900200-183901200	Active TSS	Brain Anterior Caudate	brain

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