Variant report

Variant	rs62179636
Chromosome Location	chr2:153564631-153564632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153564142..153567508-chr2:157197540..157200552,3	K562	blood:
2	chr2:153029944..153031491-chr2:153562349..153565101,2	K562	blood:
3	chr2:153564281..153565931-chr2:153590243..153592879,2	K562	blood:

Variant related genes	Relation type
ENSG00000153234	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10169433	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10178613	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10193713	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13413144	0.82[EUR][1000 genomes]
rs13419134	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13427289	0.81[EUR][1000 genomes]
rs1437677	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2450	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4664120	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4664599	0.88[EUR][1000 genomes]
rs4664608	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62179623	0.82[EUR][1000 genomes]
rs62179635	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9989874	0.88[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	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153523400-153571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153525000-153571800	Weak transcription	Small Intestine	intestine
3	chr2:153533400-153571600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:153533800-153572600	Weak transcription	Fetal Brain Male	brain
5	chr2:153536000-153572600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:153537400-153565400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:153537600-153571800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:153539600-153571800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:153539600-153572400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:153539600-153572400	Weak transcription	Pancreas	Pancrea
11	chr2:153544400-153568200	Weak transcription	Fetal Kidney	kidney
12	chr2:153551200-153567200	Weak transcription	Hela-S3	cervix
13	chr2:153551200-153568000	Weak transcription	Ovary	ovary
14	chr2:153551200-153571400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:153551200-153571800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:153551200-153571800	Weak transcription	Brain Substantia Nigra	brain
17	chr2:153551200-153572400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:153551400-153566400	Weak transcription	HUVEC	blood vessel
19	chr2:153551400-153568400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:153551400-153571800	Weak transcription	HSMMtube	muscle
21	chr2:153552400-153567400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:153554200-153566800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:153554400-153565000	Weak transcription	Osteobl	bone
24	chr2:153556800-153568800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:153557200-153570000	Strong transcription	HepG2	liver
26	chr2:153557800-153567800	ZNF genes & repeats	GM12878-XiMat	blood
27	chr2:153557800-153572200	Strong transcription	Fetal Thymus	thymus
28	chr2:153558200-153573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:153558400-153565400	Weak transcription	NHDF-Ad	bronchial
30	chr2:153558600-153565000	Weak transcription	HSMM	muscle
31	chr2:153558600-153565400	Weak transcription	NH-A	brain
32	chr2:153558600-153572400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:153558600-153572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:153558600-153572400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:153558600-153572400	Weak transcription	NHLF	lung
36	chr2:153558800-153565000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:153558800-153565200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:153558800-153565200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:153558800-153565200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:153558800-153565400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:153558800-153565400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:153558800-153565400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:153558800-153565400	Weak transcription	Colonic Mucosa	Colon
44	chr2:153558800-153566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:153558800-153566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:153558800-153568400	Weak transcription	Lung	lung
47	chr2:153558800-153571800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:153558800-153571800	Weak transcription	Fetal Intestine Small	intestine
49	chr2:153558800-153572400	Weak transcription	Esophagus	oesophagus
50	chr2:153558800-153573000	Weak transcription	Aorta	Aorta

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