Variant report

Variant	rs474577
Chromosome Location	chr11:94171163-94171164
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: 28 )
Associated
traits (count: 25 )

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

rs_ID	r²[population]
rs10831225	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11020802	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11020803	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12224966	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1257769	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1272743	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3017077	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs509723	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs509744	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs518640	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs521349	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs530569	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs535801	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs540199	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs550255	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56108804	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs563807	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59678918	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs625245	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639311	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs641936	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs654718	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs657249	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs680695	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs948575	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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
rs474577	RP11-685N10.1	cis	Stomach	GTEx
rs474577	MRE11A	cis	Stomach	GTEx
rs474577	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs474577	RP11-685N10.1	cis	Artery Tibial	GTEx
rs474577	MRE11A	cis	Artery Tibial	GTEx
rs474577	RP11-685N10.1	cis	Artery Aorta	GTEx
rs474577	MRE11A	cis	Thyroid	GTEx
rs474577	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs474577	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs474577	MRE11A	cis	lung	GTEx
rs474577	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs474577	RP11-685N10.1	cis	lung	GTEx
rs474577	MRE11A	cis	Whole Blood	GTEx
rs474577	RP11-685N10.1	cis	Thyroid	GTEx
rs474577	MRE11A	cis	Adipose Subcutaneous	GTEx
rs474577	MRE11A	cis	Nerve Tibial	GTEx
rs474577	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs474577	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs474577	MRE11A	cis	Esophagus Mucosa	GTEx
rs474577	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs474577	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs474577	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs474577	MRE11A	cis	Esophagus Muscularis	GTEx
rs474577	MRE11A	cis	Heart Left Ventricle	GTEx
rs474577	MRE11A	cis	Artery Aorta	GTEx

Chromatin state (count:122 , 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	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
11	chr11:94157600-94182200	Weak transcription	Osteobl	bone
12	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
13	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:94161000-94183000	Strong transcription	Dnd41	blood
15	chr11:94161200-94172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:94163000-94171600	Weak transcription	Fetal Heart	heart
20	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:94163000-94186000	Weak transcription	Fetal Brain Male	brain
22	chr11:94163000-94192800	Weak transcription	HSMMtube	muscle
23	chr11:94163000-94199200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:94163000-94206000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:94163000-94207200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:94163200-94177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:94163200-94179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
29	chr11:94166400-94179800	Weak transcription	NHEK	skin
30	chr11:94166600-94216400	Weak transcription	Gastric	stomach
31	chr11:94166800-94202200	Weak transcription	Stomach Mucosa	stomach
32	chr11:94167200-94176400	Weak transcription	Ovary	ovary
33	chr11:94167200-94206000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
35	chr11:94167600-94178200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:94167600-94206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:94168000-94178200	Weak transcription	NH-A	brain
38	chr11:94168400-94175600	Weak transcription	Fetal Kidney	kidney
39	chr11:94168400-94176200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:94168400-94178200	Weak transcription	Fetal Lung	lung
41	chr11:94168600-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:94168800-94180200	Weak transcription	Thymus	Thymus
43	chr11:94168800-94191000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:94169000-94177600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:94169200-94175400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:94169200-94176600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:94169600-94173000	Weak transcription	Fetal Stomach	stomach
48	chr11:94169600-94176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:94169600-94178400	Weak transcription	Pancreas	Pancrea
50	chr11:94169600-94178600	Weak transcription	Fetal Intestine Small	intestine

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