Variant report

Variant	rs4832012
Chromosome Location	chr2:86000500-86000501
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85995337..85997377-chr2:86000338..86004148,3	K562	blood:
2	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
3	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
4	chr2:85998588..86002655-chr2:86008368..86012059,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1055770	1.00[CHB][hapmap]
rs11688843	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989354	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009725	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1465821	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4832010	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832011	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4832013	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832194	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832197	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832199	1.00[CHB][hapmap]
rs67494720	0.84[AMR][1000 genomes];0.97[EUR][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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85994800-86002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:85995200-86000600	Enhancers	Pancreas	Pancrea
3	chr2:85995600-86002200	Enhancers	Liver	Liver
4	chr2:85995800-86001600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:85995800-86002000	Enhancers	Fetal Brain Male	brain
6	chr2:85996800-86000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:85997600-86000600	Enhancers	Lung	lung
8	chr2:85997800-86001000	Enhancers	Stomach Mucosa	stomach
9	chr2:85998000-86002000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:85998200-86001000	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:85998600-86001400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:85998800-86000800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:85998800-86001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:85998800-86001000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:85999000-86000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:85999000-86000600	Flanking Active TSS	Fetal Brain Female	brain
17	chr2:85999000-86002200	Enhancers	Spleen	Spleen
18	chr2:85999000-86002400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:85999200-86001800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:85999400-86001600	Enhancers	Colonic Mucosa	Colon
21	chr2:85999400-86003600	Weak transcription	Gastric	stomach
22	chr2:85999600-86001000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:85999800-86000600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:85999800-86000600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:85999800-86000600	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr2:85999800-86000600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr2:85999800-86000600	Flanking Active TSS	NH-A	brain
28	chr2:85999800-86000800	Flanking Active TSS	Hela-S3	cervix
29	chr2:85999800-86002200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr2:86000000-86000600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:86000000-86000600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:86000000-86000600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:86000000-86000600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr2:86000000-86000600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:86000000-86000600	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr2:86000000-86000600	Flanking Active TSS	Right Atrium	heart
37	chr2:86000000-86000800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr2:86000000-86001000	Enhancers	Esophagus	oesophagus
39	chr2:86000000-86001200	Enhancers	Fetal Kidney	kidney
40	chr2:86000000-86001800	Genic enhancers	Fetal Intestine Small	intestine
41	chr2:86000200-86000600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
42	chr2:86000200-86000600	Enhancers	Aorta	Aorta
43	chr2:86000200-86000600	Bivalent Enhancer	NHEK	skin
44	chr2:86000200-86000800	Transcr. at gene 5' and 3'	HSMM	muscle
45	chr2:86000200-86001400	Enhancers	Brain Substantia Nigra	brain
46	chr2:86000200-86001800	Bivalent Enhancer	Placenta	Placenta
47	chr2:86000200-86001800	Enhancers	HepG2	liver
48	chr2:86000200-86002000	Enhancers	Brain Angular Gyrus	brain
49	chr2:86000200-86002000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr2:86000200-86010400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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