Variant report

Variant	rs588701
Chromosome Location	chr11:94177422-94177423
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	chr11:94169718..94171277-chr11:94176565..94179417,2	K562	blood:
2	chr11:94170626..94172978-chr11:94174814..94177499,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1014666	0.81[CEU][hapmap]
rs10831225	1.00[CEU][hapmap];0.86[CHD][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11020802	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020803	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12224966	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1257769	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1272743	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508784	0.81[CEU][hapmap]
rs3017077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472344	0.80[CEU][hapmap]
rs473297	0.81[CEU][hapmap]
rs474577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497763	0.84[CEU][hapmap]
rs500558	0.80[CEU][hapmap]
rs509723	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs509744	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512150	0.84[CEU][hapmap]
rs518640	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs521349	0.92[CEU][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs521669	0.82[CHB][hapmap]
rs522596	0.85[CHB][hapmap]
rs525057	0.80[CEU][hapmap]
rs525921	0.80[CEU][hapmap]
rs530569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs535801	0.81[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540199	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs540514	0.83[CHB][hapmap];0.85[YRI][hapmap]
rs550255	1.00[CEU][hapmap];0.86[CHD][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs552126	0.82[CHB][hapmap];0.95[YRI][hapmap]
rs56108804	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs563807	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581002	0.83[CHB][hapmap];0.85[YRI][hapmap]
rs584707	0.82[CHB][hapmap]
rs59678918	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs598599	0.83[CHB][hapmap];0.80[YRI][hapmap]
rs603937	0.80[CHB][hapmap]
rs607974	0.83[CHB][hapmap];0.85[YRI][hapmap]
rs610899	0.80[CEU][hapmap]
rs625245	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs639311	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641936	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6483341	0.81[CEU][hapmap]
rs654718	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs657249	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680695	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs682213	0.81[CEU][hapmap]
rs684507	0.81[CEU][hapmap]
rs695093	0.80[CEU][hapmap]
rs948575	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][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	esv1795745	chr11:94144987-94227993	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1798271	chr11:94144987-94227993	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs588701	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs588701	MRE11A	cis	Stomach	GTEx
rs588701	MRE11A	cis	Artery Aorta	GTEx
rs588701	MRE11A	cis	Heart Left Ventricle	GTEx
rs588701	MRE11A	cis	Thyroid	GTEx
rs588701	MAML2	cis	cerebellum	SCAN
rs588701	RP11-685N10.1	cis	Artery Aorta	GTEx
rs588701	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs588701	MRE11A	cis	cerebellum	SCAN
rs588701	MAML2	cis	parietal	SCAN
rs588701	MRE11A	cis	Nerve Tibial	GTEx
rs588701	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs588701	RP11-685N10.1	cis	Artery Tibial	GTEx
rs588701	RP11-685N10.1	cis	lung	GTEx
rs588701	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs588701	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs588701	MRE11A	cis	multi-tissue	Pritchard
rs588701	RP11-685N10.1	cis	Stomach	GTEx
rs588701	MRE11A	cis	Artery Tibial	GTEx
rs588701	MRE11A	cis	Esophagus Mucosa	GTEx
rs588701	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs588701	MRE11A	cis	Esophagus Muscularis	GTEx
rs588701	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs588701	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs588701	MRE11A	cis	Whole Blood	GTEx
rs588701	MRE11A	cis	Adipose Subcutaneous	GTEx
rs588701	MRE11A	cis	lung	GTEx
rs588701	MRE11A	cis	parietal	SCAN
rs588701	RP11-685N10.1	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
2	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
8	chr11:94157600-94182200	Weak transcription	Osteobl	bone
9	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
10	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:94161000-94183000	Strong transcription	Dnd41	blood
12	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:94163000-94186000	Weak transcription	Fetal Brain Male	brain
16	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
17	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:94163200-94179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
22	chr11:94166400-94179800	Weak transcription	NHEK	skin
23	chr11:94166600-94216400	Weak transcription	Gastric	stomach
24	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
25	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
27	chr11:94167600-94178200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:94168000-94178200	Weak transcription	NH-A	brain
30	chr11:94168400-94178200	Weak transcription	Fetal Lung	lung
31	chr11:94168600-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:94168800-94180200	Weak transcription	Thymus	Thymus
33	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:94169000-94177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:94169600-94178400	Weak transcription	Pancreas	Pancrea
36	chr11:94169600-94178600	Weak transcription	Fetal Intestine Small	intestine
37	chr11:94169800-94178200	Weak transcription	Fetal Brain Female	brain
38	chr11:94169800-94178800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:94169800-94179000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:94169800-94199000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
42	chr11:94170000-94178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:94170000-94178800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:94170000-94178800	Weak transcription	Brain Anterior Caudate	brain
45	chr11:94170000-94178800	Weak transcription	HepG2	liver
46	chr11:94170000-94180000	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:94170000-94180400	Weak transcription	Lung	lung
48	chr11:94170000-94182000	Weak transcription	NHDF-Ad	bronchial
49	chr11:94170000-94182200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:94170000-94192600	Weak transcription	Aorta	Aorta

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