Variant report

Variant	rs6692253
Chromosome Location	chr1:47680527-47680528
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	chr1:47679659..47682263-chr1:47720336..47722266,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10789504	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890471	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211479	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11211481	0.80[EUR][1000 genomes]
rs12144626	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12145836	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543502	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2984618	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34087210	0.82[AMR][1000 genomes]
rs4134058	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926521	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926524	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926725	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926726	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782665	0.80[EUR][1000 genomes]
rs61784776	1.00[ASN][1000 genomes]
rs6588196	1.00[ASN][1000 genomes]
rs6658125	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669341	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6695898	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741959	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs743270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525145	0.80[EUR][1000 genomes]
rs7534271	0.80[EUR][1000 genomes]
rs7545034	1.00[ASN][1000 genomes]
rs7664	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs977747	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6692253	RP1-18D14.7	cis	Whole Blood	GTEx
rs6692253	TAL1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47674400-47690600	Weak transcription	Gastric	stomach
2	chr1:47675800-47680600	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:47677600-47681800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:47677800-47681600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:47678200-47681200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:47678200-47681600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:47679200-47680800	Enhancers	Placenta	Placenta
8	chr1:47679200-47686200	Weak transcription	Left Ventricle	heart
9	chr1:47679200-47687000	Weak transcription	Adipose Nuclei	Adipose
10	chr1:47679200-47689400	Weak transcription	Lung	lung
11	chr1:47679400-47684800	Weak transcription	Spleen	Spleen
12	chr1:47679600-47683600	Genic enhancers	K562	blood
13	chr1:47679600-47689000	Weak transcription	Right Atrium	heart
14	chr1:47680000-47681600	Weak transcription	HUVEC	blood vessel
15	chr1:47680400-47681000	Bivalent Enhancer	HepG2	liver

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