Variant report

Variant	rs544337
Chromosome Location	chr11:94250064-94250065
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	chr11:94248605..94250717-chr11:94251159..94253101,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1014666	0.84[CEU][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10831225	0.80[CEU][hapmap]
rs11020803	0.80[CEU][hapmap]
rs12224966	0.80[CEU][hapmap]
rs1270146	0.87[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs2508460	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508782	0.85[CEU][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2508784	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2509321	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2509324	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509943	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3017077	0.80[CEU][hapmap]
rs4342993	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4593974	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs472344	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs473297	0.84[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs475531	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs482629	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs484590	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs486556	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489200	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492001	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs493982	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs496190	0.83[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs496797	0.86[EUR][1000 genomes]
rs497763	0.88[CEU][hapmap];0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs500558	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs521349	0.88[CEU][hapmap]
rs524350	0.86[EUR][1000 genomes]
rs525057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs525921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs536768	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540199	0.80[CEU][hapmap]
rs547207	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs550255	0.80[CEU][hapmap]
rs553634	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs557148	0.83[MEX][hapmap]
rs569143	0.83[MEX][hapmap]
rs571044	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582049	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582077	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs588701	0.80[CEU][hapmap]
rs595127	0.85[CEU][hapmap];0.81[CHD][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs610899	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs612075	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs612632	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614424	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621562	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs622961	0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs625245	0.80[CEU][hapmap]
rs628079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628164	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs628728	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629119	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629156	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs642744	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs647249	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6483341	0.84[CEU][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs654718	0.80[CEU][hapmap]
rs658234	0.81[CEU][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs659489	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs662572	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs682213	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs684507	0.84[CEU][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs693815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs948575	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv993276	chr11:94248944-94251829	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs544337	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs544337	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs544337	MRE11A	cis	multi-tissue	Pritchard
rs544337	MRE11A	cis	lung	GTEx
rs544337	MRE11A	cis	Nerve Tibial	GTEx
rs544337	MRE11A	cis	parietal	SCAN
rs544337	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs544337	RP11-685N10.1	cis	lung	GTEx
rs544337	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs544337	MRE11A	cis	Esophagus Mucosa	GTEx
rs544337	GPR83	cis	parietal	SCAN
rs544337	MRE11A	cis	Thyroid	GTEx
rs544337	HEPHL1	cis	cerebellum	SCAN
rs544337	MRE11A	cis	Adipose Subcutaneous	GTEx
rs544337	MRE11A	cis	cerebellum	SCAN
rs544337	MRE11A	cis	Heart Left Ventricle	GTEx
rs544337	MRE11A	cis	Artery Tibial	GTEx
rs544337	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs544337	MRE11A	cis	Esophagus Muscularis	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94246000-94267400	Weak transcription	Aorta	Aorta
2	chr11:94246200-94252800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:94246800-94252800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:94246800-94252800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:94246800-94259000	Weak transcription	Stomach Mucosa	stomach
6	chr11:94247200-94258800	Weak transcription	Fetal Intestine Small	intestine
7	chr11:94248800-94250800	Enhancers	HepG2	liver
8	chr11:94249800-94250600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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