Variant report

Variant	rs601341
Chromosome Location	chr11:94167777-94167778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1014666	0.86[YRI][hapmap]
rs1133572	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2508678	0.88[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs498999	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs499952	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500558	0.92[YRI][hapmap]
rs518276	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs529126	0.82[CEU][hapmap]
rs533984	0.93[CHD][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs541472	0.88[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576948	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs592068	0.90[CEU][hapmap]
rs622961	0.86[YRI][hapmap]
rs682213	0.82[CHB][hapmap];0.93[YRI][hapmap]

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:22)

SNP	Gene	Cis/trans	Tissue	Source
rs601341	MRE11A	cis	Artery Tibial	GTEx
rs601341	RP11-685N10.1	cis	Stomach	GTEx
rs601341	MRE11A	cis	Stomach	GTEx
rs601341	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs601341	RP11-685N10.1	cis	Artery Tibial	GTEx
rs601341	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs601341	MRE11A	cis	cerebellum	SCAN
rs601341	SLC36A4	cis	parietal	SCAN
rs601341	MRE11A	cis	Nerve Tibial	GTEx
rs601341	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs601341	MRE11A	cis	parietal	SCAN
rs601341	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs601341	RP11-685N10.1	cis	lung	GTEx
rs601341	MRE11A	cis	Esophagus Muscularis	GTEx
rs601341	MRE11A	cis	Adipose Subcutaneous	GTEx
rs601341	GPR83	cis	parietal	SCAN
rs601341	MRE11A	cis	Esophagus Mucosa	GTEx
rs601341	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs601341	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs601341	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs601341	RP11-685N10.1	cis	Artery Aorta	GTEx
rs601341	MRE11A	cis	lung	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94144200-94169200	Weak transcription	Aorta	Aorta
2	chr11:94149600-94169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:94151200-94170800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:94151400-94178200	Weak transcription	HUVEC	blood vessel
5	chr11:94151800-94168400	Weak transcription	Pancreas	Pancrea
6	chr11:94152200-94206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:94153200-94177200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:94154400-94183600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:94155000-94170200	Strong transcription	Primary T cells from cord blood	blood
10	chr11:94155000-94175000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:94156600-94175000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:94157200-94168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:94157400-94194200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:94157600-94178200	Weak transcription	Colonic Mucosa	Colon
17	chr11:94157600-94182200	Weak transcription	Osteobl	bone
18	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
19	chr11:94157800-94169200	Weak transcription	NHDF-Ad	bronchial
20	chr11:94157800-94182200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:94158400-94168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:94161000-94183000	Strong transcription	Dnd41	blood
23	chr11:94161200-94172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:94161400-94170400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr11:94162000-94168400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:94162000-94168400	Weak transcription	Fetal Stomach	stomach
27	chr11:94162000-94170000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:94162800-94168200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:94162800-94168400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:94162800-94169200	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:94162800-94170000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:94162800-94176400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:94163000-94167800	Weak transcription	Fetal Kidney	kidney
36	chr11:94163000-94168000	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:94163000-94168000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:94163000-94168200	Weak transcription	Brain Anterior Caudate	brain
39	chr11:94163000-94168200	Weak transcription	Fetal Brain Female	brain
40	chr11:94163000-94168200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:94163000-94168800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:94163000-94169000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:94163000-94169200	Weak transcription	Brain Angular Gyrus	brain
44	chr11:94163000-94169200	Weak transcription	Lung	lung
45	chr11:94163000-94169200	Weak transcription	Spleen	Spleen
46	chr11:94163000-94169200	Weak transcription	A549	lung
47	chr11:94163000-94169400	Weak transcription	HSMM	muscle
48	chr11:94163000-94170800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:94163000-94171600	Weak transcription	Fetal Heart	heart
50	chr11:94163000-94182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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