Variant report

Variant	rs3791247
Chromosome Location	chr2:183900274-183900275
allele	C/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:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10177344	0.88[CHB][hapmap]
rs10187800	0.88[CHB][hapmap]
rs10497618	0.88[CHB][hapmap]
rs13399354	0.88[CHB][hapmap]
rs1400132	0.80[CEU][hapmap]
rs1606994	0.83[ASN][1000 genomes]
rs16823717	0.80[CEU][hapmap];0.83[MKK][hapmap]
rs16823721	0.80[CEU][hapmap];0.83[MKK][hapmap]
rs16823916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16823974	0.80[CEU][hapmap]
rs16824001	0.80[CEU][hapmap]
rs16824018	0.80[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap]
rs16824033	0.80[CEU][hapmap]
rs2176232	0.80[CEU][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap]
rs2368352	0.88[CHB][hapmap]
rs2368372	1.00[AFR][1000 genomes]
rs2675114	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2675115	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2675116	0.83[ASN][1000 genomes]
rs3817313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57203160	0.81[EUR][1000 genomes]
rs60969946	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6709841	0.88[EUR][1000 genomes]
rs72888404	0.96[ASN][1000 genomes]
rs7510	0.88[CHB][hapmap]
rs9333279	0.88[CHB][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:97 , 50 per page) page: 1 2

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	chr2:183886600-183900600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:183886800-183900600	Weak transcription	Fetal Stomach	stomach
6	chr2:183889800-183900600	Weak transcription	Fetal Lung	lung
7	chr2:183889800-183902000	Weak transcription	Gastric	stomach
8	chr2:183891200-183900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:183891400-183901800	Weak transcription	Small Intestine	intestine
10	chr2:183894600-183902000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:183894600-183902000	Weak transcription	Pancreas	Pancrea
12	chr2:183895000-183900600	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:183895400-183901200	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:183896600-183900400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:183897800-183900600	Enhancers	Liver	Liver
16	chr2:183897800-183900800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:183897800-183901200	Weak transcription	Left Ventricle	heart
18	chr2:183897800-183901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:183898000-183900400	Weak transcription	Right Ventricle	heart
20	chr2:183898000-183901000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:183898000-183901200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:183898600-183900600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:183898600-183900600	Enhancers	Adipose Nuclei	Adipose
24	chr2:183898800-183900400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:183898800-183900800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:183898800-183901400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:183899000-183900400	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:183899200-183900600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:183899200-183901000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:183899400-183900400	Enhancers	Stomach Mucosa	stomach
31	chr2:183899400-183900800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:183899400-183900800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:183899400-183900800	Enhancers	Fetal Intestine Small	intestine
34	chr2:183899400-183901000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:183899400-183901000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr2:183899400-183901200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr2:183899400-183901400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:183899600-183900400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:183899600-183901200	Enhancers	Ovary	ovary
40	chr2:183899600-183901400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:183899600-183901400	Flanking Active TSS	NH-A	brain
42	chr2:183899600-183901600	Flanking Active TSS	Osteobl	bone
43	chr2:183899600-183903800	Active TSS	Brain Angular Gyrus	brain
44	chr2:183899600-183904200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr2:183899800-183900400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:183899800-183901000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:183899800-183901000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:183899800-183901200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:183899800-183901800	Flanking Active TSS	HUVEC	blood vessel
50	chr2:183899800-183903400	Active TSS	H1 Cell Line	embryonic stem cell

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