Variant report

Variant	rs2054708
Chromosome Location	chr2:179645577-179645578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10171049	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs10497520	0.87[MEX][hapmap]
rs10497522	0.85[GIH][hapmap]
rs2291309	0.89[EUR][1000 genomes]
rs2291310	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2291311	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2291312	1.00[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs2306637	0.83[MKK][hapmap]
rs2627037	0.89[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs3754953	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs4894037	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7423101	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7585334	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7604033	1.00[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs922984	1.00[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:179605400-179662400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179610800-179671400	Weak transcription	Ovary	ovary
4	chr2:179627000-179655200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179627400-179653200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:179627600-179652600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:179627600-179663800	Weak transcription	Thymus	Thymus
8	chr2:179629600-179666200	Weak transcription	GM12878-XiMat	blood
9	chr2:179630600-179651000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:179631200-179649800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:179632000-179658800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:179632400-179667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:179634200-179648600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:179636200-179647000	Weak transcription	Lung	lung
15	chr2:179636200-179660600	Weak transcription	Brain Anterior Caudate	brain
16	chr2:179637200-179651000	Strong transcription	Primary T cells from cord blood	blood
17	chr2:179637200-179651000	Strong transcription	HSMMtube	muscle
18	chr2:179637600-179647000	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:179639000-179672000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:179639400-179671400	Weak transcription	Gastric	stomach
21	chr2:179641600-179647400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:179641800-179646800	Weak transcription	Pancreas	Pancrea
23	chr2:179641800-179646800	Weak transcription	Right Ventricle	heart
24	chr2:179641800-179647000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:179641800-179648800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:179642200-179650200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:179642400-179647400	Weak transcription	Fetal Thymus	thymus
28	chr2:179642600-179646000	Genic enhancers	Fetal Heart	heart
29	chr2:179642600-179653000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:179642800-179647000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:179642800-179648800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:179643600-179646800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:179643800-179645600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr2:179643800-179647200	Weak transcription	HSMM	muscle
35	chr2:179644400-179647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:179644800-179646000	Strong transcription	Psoas Muscle	Psoas
37	chr2:179644800-179655400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:179645200-179646000	Strong transcription	Primary B cells from cord blood	blood
39	chr2:179645200-179646000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:179645200-179646000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:179645200-179646000	Genic enhancers	Left Ventricle	heart
42	chr2:179645400-179645600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:179645400-179645600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:179645400-179646000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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