Variant report

Variant	rs563807
Chromosome Location	chr11:94161615-94161616
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10831225	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11020802	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020803	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12224966	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1257769	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1272743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3017077	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474577	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs509723	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs509744	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs518640	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs521349	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs530569	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs535801	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs540199	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs550255	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56108804	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs588701	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59678918	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs625245	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs639311	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs641936	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs654718	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs657249	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs680695	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs948575	0.92[AMR][1000 genomes];0.98[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:25)

SNP	Gene	Cis/trans	Tissue	Source
rs563807	RP11-685N10.1	cis	lung	GTEx
rs563807	RP11-685N10.1	cis	Artery Aorta	GTEx
rs563807	MRE11A	cis	Esophagus Muscularis	GTEx
rs563807	MRE11A	cis	Adipose Subcutaneous	GTEx
rs563807	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs563807	RP11-685N10.1	cis	Thyroid	GTEx
rs563807	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs563807	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs563807	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs563807	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs563807	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs563807	MRE11A	cis	Nerve Tibial	GTEx
rs563807	MRE11A	cis	Stomach	GTEx
rs563807	MRE11A	cis	Whole Blood	GTEx
rs563807	MRE11A	cis	Heart Left Ventricle	GTEx
rs563807	RP11-685N10.1	cis	Artery Tibial	GTEx
rs563807	RP11-685N10.1	cis	Stomach	GTEx
rs563807	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs563807	MRE11A	cis	Thyroid	GTEx
rs563807	MRE11A	cis	Artery Tibial	GTEx
rs563807	MRE11A	cis	lung	GTEx
rs563807	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs563807	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs563807	MRE11A	cis	Esophagus Mucosa	GTEx
rs563807	MRE11A	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:94138600-94162200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
4	chr11:94145000-94161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:94145400-94162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:94147200-94162200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:94147600-94162000	Weak transcription	HepG2	liver
8	chr11:94149000-94166600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:94150200-94162600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:94150200-94167200	Weak transcription	NH-A	brain
12	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
14	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
15	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:94152400-94162400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:94153000-94167000	Weak transcription	K562	blood
18	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:94154800-94163000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:94154800-94163400	Strong transcription	Adipose Nuclei	Adipose
22	chr11:94155000-94166200	Weak transcription	Small Intestine	intestine
23	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
24	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr11:94155600-94161800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:94155600-94162000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:94155800-94166600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:94156000-94163400	Weak transcription	NHLF	lung
29	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:94157200-94162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:94157200-94162200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:94157200-94168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:94157400-94161800	Weak transcription	Fetal Intestine Small	intestine
34	chr11:94157400-94162600	Weak transcription	Left Ventricle	heart
35	chr11:94157400-94162600	Weak transcription	Lung	lung
36	chr11:94157400-94162600	Weak transcription	Spleen	Spleen
37	chr11:94157400-94162800	Weak transcription	Gastric	stomach
38	chr11:94157400-94166400	Weak transcription	Right Ventricle	heart
39	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:94157600-94161800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:94157600-94161800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:94157600-94162000	Weak transcription	HSMM	muscle
45	chr11:94157600-94162200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:94157600-94162200	Weak transcription	Fetal Heart	heart
47	chr11:94157600-94162400	Weak transcription	HSMMtube	muscle
48	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
49	chr11:94157600-94182200	Weak transcription	Osteobl	bone
50	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus

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