Variant report

Variant	rs62175451
Chromosome Location	chr2:179699384-179699385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16866563	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62175452	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62175453	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62175455	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6732126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs726215	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72957369	0.98[AMR][1000 genomes];0.94[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179690600-179701800	Weak transcription	Lung	lung
2	chr2:179690600-179701800	Weak transcription	Pancreas	Pancrea
3	chr2:179693000-179701600	Weak transcription	Adipose Nuclei	Adipose
4	chr2:179693000-179709200	Weak transcription	Aorta	Aorta
5	chr2:179693400-179701800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:179693400-179712600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:179694000-179710000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
10	chr2:179694400-179701400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:179694400-179701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:179695600-179701200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:179695600-179701400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:179695600-179701600	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:179695600-179709000	Weak transcription	Ovary	ovary
16	chr2:179695600-179712600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:179695600-179712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:179695600-179713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:179695800-179701800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:179695800-179709000	Weak transcription	HSMMtube	muscle
21	chr2:179695800-179711000	Weak transcription	Right Ventricle	heart
22	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:179696600-179701600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:179697200-179701600	Weak transcription	Thymus	Thymus
26	chr2:179698000-179700600	Strong transcription	Primary B cells from cord blood	blood
27	chr2:179698200-179700000	Strong transcription	Primary T cells from cord blood	blood
28	chr2:179698200-179700000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:179698400-179701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:179698600-179700000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:179699000-179700000	Enhancers	Fetal Heart	heart
32	chr2:179699200-179701600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:179699200-179702000	Weak transcription	Left Ventricle	heart

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