Variant report

Variant	rs12476186
Chromosome Location	chr2:153247268-153247269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10931079	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693362	0.84[ASN][1000 genomes]
rs13388095	0.84[ASN][1000 genomes]
rs16831021	0.92[ASN][1000 genomes]
rs16831065	0.83[ASN][1000 genomes]
rs16831082	0.92[ASN][1000 genomes]
rs16831093	0.93[ASN][1000 genomes]
rs16831100	0.93[ASN][1000 genomes]
rs16831118	0.84[ASN][1000 genomes]
rs2345874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346203	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2881335	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34006820	0.84[ASN][1000 genomes]
rs35662043	0.90[ASN][1000 genomes]
rs66663920	0.96[ASN][1000 genomes]
rs6746538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757782	0.93[ASN][1000 genomes]
rs6761178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67689907	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67761838	0.92[ASN][1000 genomes]
rs73012774	0.92[ASN][1000 genomes]
rs73012784	0.92[ASN][1000 genomes]
rs7587450	0.93[ASN][1000 genomes]
rs7601047	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
2	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
3	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:153233400-153249000	Weak transcription	Gastric	stomach
5	chr2:153233800-153255400	Weak transcription	NHEK	skin
6	chr2:153237400-153249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:153237400-153255400	Weak transcription	HMEC	breast
9	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
10	chr2:153241200-153251600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
12	chr2:153241600-153249000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:153242800-153247800	Weak transcription	Psoas Muscle	Psoas
14	chr2:153242800-153248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:153242800-153248000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:153242800-153249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:153242800-153252600	Weak transcription	A549	lung
18	chr2:153243000-153251600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:153243200-153249200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:153243400-153247400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
22	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
23	chr2:153245000-153249200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:153245000-153251800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:153245800-153247400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:153245800-153250800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:153245800-153250800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:153246000-153247400	Strong transcription	Fetal Stomach	stomach
29	chr2:153246000-153248200	Strong transcription	HepG2	liver
30	chr2:153246000-153251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:153246200-153247400	Enhancers	Placenta	Placenta
32	chr2:153246200-153247600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:153246400-153247400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:153246400-153247400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:153246400-153247400	Strong transcription	Fetal Intestine Small	intestine
36	chr2:153246400-153251600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
38	chr2:153246800-153247400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:153246800-153248200	Enhancers	Stomach Mucosa	stomach
40	chr2:153247000-153248200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:153247000-153248200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:153247000-153249000	Enhancers	Brain Hippocampus Middle	brain
43	chr2:153247000-153251800	Enhancers	Brain Anterior Caudate	brain
44	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:153247200-153247400	Enhancers	Lung	lung
46	chr2:153247200-153247400	Enhancers	Ovary	ovary
47	chr2:153247200-153247800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:153247200-153247800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr2:153247200-153248000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:153247200-153248000	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links