Variant report

Variant	rs576948
Chromosome Location	chr11:94165470-94165471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1133572	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508678	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs498999	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs499952	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs518276	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs533984	0.84[EUR][1000 genomes]
rs541472	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs601341	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs675478	0.81[EUR][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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs576948	MRE11A	cis	lung	GTEx
rs576948	RP11-685N10.1	cis	Artery Tibial	GTEx
rs576948	MRE11A	cis	Esophagus Mucosa	GTEx
rs576948	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs576948	RP11-685N10.1	cis	Artery Aorta	GTEx
rs576948	MRE11A	cis	Artery Tibial	GTEx
rs576948	MRE11A	cis	Nerve Tibial	GTEx
rs576948	MRE11A	cis	Stomach	GTEx
rs576948	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs576948	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs576948	MRE11A	cis	Esophagus Muscularis	GTEx
rs576948	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs576948	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs576948	MRE11A	cis	Adipose Subcutaneous	GTEx
rs576948	RP11-685N10.1	cis	lung	GTEx
rs576948	RP11-685N10.1	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
2	chr11:94149000-94166600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:94150200-94167200	Weak transcription	NH-A	brain
5	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
7	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
8	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:94153000-94167000	Weak transcription	K562	blood
10	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:94155000-94166200	Weak transcription	Small Intestine	intestine
13	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
14	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr11:94155800-94166600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:94157200-94168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:94157400-94166400	Weak transcription	Right Ventricle	heart
19	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
23	chr11:94157600-94182200	Weak transcription	Osteobl	bone
24	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
25	chr11:94157800-94167000	Weak transcription	Hela-S3	cervix
26	chr11:94157800-94169200	Weak transcription	NHDF-Ad	bronchial
27	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:94158400-94168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:94160000-94166000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:94160800-94166200	Weak transcription	Stomach Mucosa	stomach
31	chr11:94161000-94166400	Weak transcription	HMEC	breast
32	chr11:94161000-94183000	Strong transcription	Dnd41	blood
33	chr11:94161200-94172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:94161400-94170400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:94162000-94168400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:94162000-94168400	Weak transcription	Fetal Stomach	stomach
37	chr11:94162000-94170000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:94162800-94168200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:94162800-94168400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:94162800-94169200	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:94162800-94170000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:94163000-94165600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:94163000-94165600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:94163000-94166200	Weak transcription	Brain Germinal Matrix	brain
48	chr11:94163000-94166200	Weak transcription	Fetal Lung	lung
49	chr11:94163000-94166200	Weak transcription	Gastric	stomach
50	chr11:94163000-94166400	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links