Variant report

Variant	rs12052272
Chromosome Location	chr2:179728556-179728557
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10186056	0.82[JPT][hapmap]
rs10930838	0.81[ASN][1000 genomes]
rs11693733	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12053009	0.93[ASN][1000 genomes]
rs12465233	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes]
rs12988301	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12990752	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13033688	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16866554	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17453312	1.00[JPT][hapmap]
rs1872203	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs55968359	0.85[EUR][1000 genomes]
rs6711319	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs6717039	0.81[EUR][1000 genomes]
rs6717160	0.81[EUR][1000 genomes]
rs6717759	0.84[EUR][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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
4	chr2:179702400-179729200	Weak transcription	Lung	lung
5	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
7	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:179713400-179729200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:179718200-179728600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:179718200-179728800	Weak transcription	Primary B cells from cord blood	blood
13	chr2:179722400-179728800	Weak transcription	Aorta	Aorta
14	chr2:179724200-179729600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:179724200-179730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:179724400-179728600	Weak transcription	Ovary	ovary
17	chr2:179724600-179733400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:179724800-179728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:179724800-179728600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:179724800-179729000	Weak transcription	Brain Anterior Caudate	brain
21	chr2:179724800-179730000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:179724800-179732800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:179725800-179729200	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:179726200-179728600	Weak transcription	Fetal Stomach	stomach
25	chr2:179726200-179730400	Weak transcription	Fetal Brain Male	brain
26	chr2:179726400-179728600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:179726400-179733400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:179726800-179728800	Weak transcription	Left Ventricle	heart
29	chr2:179726800-179729800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:179727000-179729600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:179727800-179728800	Active TSS	Psoas Muscle	Psoas
32	chr2:179727800-179728800	Enhancers	GM12878-XiMat	blood
33	chr2:179727800-179729000	Enhancers	HSMM	muscle
34	chr2:179727800-179729400	Enhancers	Fetal Lung	lung
35	chr2:179727800-179730600	Enhancers	HUVEC	blood vessel
36	chr2:179727800-179730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:179727800-179730800	Enhancers	NHDF-Ad	bronchial
38	chr2:179727800-179731200	Strong transcription	Primary T cells from cord blood	blood
39	chr2:179728000-179728600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:179728000-179728800	Enhancers	Adipose Nuclei	Adipose
41	chr2:179728000-179729000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:179728000-179729600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:179728000-179729800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:179728000-179730400	Enhancers	Brain Germinal Matrix	brain
45	chr2:179728000-179730600	Enhancers	NH-A	brain
46	chr2:179728200-179728600	Enhancers	Colon Smooth Muscle	Colon
47	chr2:179728200-179728600	Active TSS	Right Atrium	heart
48	chr2:179728200-179728600	Enhancers	Osteobl	bone
49	chr2:179728200-179728800	Enhancers	Fetal Heart	heart
50	chr2:179728200-179729200	Enhancers	HUES64 Cell Line	embryonic stem cell

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