Variant report

Variant	rs61731491
Chromosome Location	chr2:172325498-172325499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172288832..172292910-chr2:172322388..172326341,4	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10206078	0.81[AMR][1000 genomes]
rs16859392	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16859394	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57396064	0.88[AFR][1000 genomes]
rs57999878	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58033547	0.90[AFR][1000 genomes]
rs58560571	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58796565	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs59745257	0.90[AFR][1000 genomes]
rs59886446	0.80[AFR][1000 genomes]
rs60100357	0.90[AFR][1000 genomes]
rs60837517	0.92[AFR][1000 genomes]
rs61297254	0.89[AMR][1000 genomes]
rs62183501	0.90[AFR][1000 genomes]
rs66525413	0.81[AFR][1000 genomes]
rs73021082	0.80[AFR][1000 genomes]
rs73022904	0.90[AFR][1000 genomes]
rs73022907	0.90[AFR][1000 genomes]
rs73022921	0.90[AFR][1000 genomes]
rs73022930	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73022949	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73022974	0.89[AMR][1000 genomes]
rs7563499	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7564602	0.92[AFR][1000 genomes];0.89[AMR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
4	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
5	chr2:172298400-172326200	Weak transcription	NHEK	skin
6	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
7	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:172298600-172341400	Weak transcription	NHLF	lung
9	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:172304800-172330000	Weak transcription	NH-A	brain
11	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:172305000-172326400	Weak transcription	Lung	lung
13	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:172306800-172325800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
16	chr2:172307600-172325800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:172307600-172325800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
19	chr2:172308200-172325800	Weak transcription	Brain Anterior Caudate	brain
20	chr2:172309400-172325800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
22	chr2:172312000-172325800	Weak transcription	Fetal Brain Male	brain
23	chr2:172312600-172326800	Weak transcription	Ovary	ovary
24	chr2:172313000-172325800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:172313200-172325600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:172314600-172326400	Weak transcription	Spleen	Spleen
28	chr2:172314600-172326600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:172315000-172326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:172315000-172326800	Weak transcription	Fetal Lung	lung
31	chr2:172315000-172337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:172315400-172326800	Weak transcription	HSMMtube	muscle
33	chr2:172315400-172329600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:172315600-172325800	Weak transcription	HMEC	breast
35	chr2:172315600-172326200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:172315600-172326600	Weak transcription	Brain Germinal Matrix	brain
37	chr2:172315800-172326400	Weak transcription	Esophagus	oesophagus
38	chr2:172316000-172325600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:172316000-172326200	Weak transcription	Fetal Kidney	kidney
40	chr2:172316000-172326600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:172316000-172326800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:172316200-172325800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:172316200-172326600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:172316400-172326200	Weak transcription	Osteobl	bone
45	chr2:172316600-172325600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:172316600-172325600	Weak transcription	A549	lung
47	chr2:172316600-172325800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:172316800-172325800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:172316800-172325800	Weak transcription	Liver	Liver
50	chr2:172318000-172326400	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links