Variant report

Variant	rs1270146
Chromosome Location	chr11:94215306-94215307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94210078..94211620-chr11:94214056..94215721,2	K562	blood:
2	chr11:94213539..94215601-chr11:94228089..94230235,2	K562	blood:
3	chr11:94213824..94217124-chr11:94225921..94227775,3	MCF-7	breast:
4	chr11:94213347..94215361-chr11:94222222..94224695,2	K562	blood:
5	chr11:94209182..94211578-chr11:94214221..94216536,2	K562	blood:
6	chr11:94213449..94216550-chr11:94217098..94220299,3	K562	blood:

Variant related genes	Relation type
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1014666	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508460	0.84[EUR][1000 genomes]
rs2508784	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2509321	0.81[EUR][1000 genomes]
rs2509943	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4342993	0.81[EUR][1000 genomes]
rs4593974	0.81[EUR][1000 genomes]
rs472344	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs473297	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs475531	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs476137	0.86[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482629	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486556	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs489200	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs492001	0.82[EUR][1000 genomes]
rs493982	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496190	0.91[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs496797	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497763	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500558	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs524350	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525057	0.87[CEU][hapmap];0.83[MEX][hapmap]
rs525921	0.87[CEU][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs536768	0.83[EUR][1000 genomes]
rs544337	0.86[EUR][1000 genomes]
rs547207	0.83[EUR][1000 genomes]
rs553634	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs557148	1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569143	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs571044	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs582049	0.82[EUR][1000 genomes]
rs582077	0.83[EUR][1000 genomes]
rs610899	0.96[CEU][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs612075	0.83[EUR][1000 genomes]
rs612632	0.83[EUR][1000 genomes]
rs614424	0.83[EUR][1000 genomes]
rs621562	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs622961	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs628079	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs628728	0.83[EUR][1000 genomes]
rs629119	0.82[EUR][1000 genomes]
rs629156	0.82[EUR][1000 genomes]
rs642744	0.82[EUR][1000 genomes]
rs6483341	0.96[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs659349	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs662572	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs682213	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs684507	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs693815	0.87[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs695093	0.87[CEU][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv1797582	chr11:94182992-94227993	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv1800372	chr11:94182992-94227993	Active TSS Weak transcription Strong transcription Enhancers 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	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs1270146	RP11-685N10.1	cis	Artery Aorta	GTEx
rs1270146	MRE11A	cis	Artery Tibial	GTEx
rs1270146	GPR83	cis	parietal	SCAN
rs1270146	MRE11A	cis	lung	GTEx
rs1270146	RP11-685N10.1	cis	Thyroid	GTEx
rs1270146	MRE11A	cis	parietal	SCAN
rs1270146	RP11-685N10.1	cis	Stomach	GTEx
rs1270146	RP11-685N10.1	cis	Nerve Tibial	GTEx
rs1270146	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1270146	MRE11A	cis	Nerve Tibial	GTEx
rs1270146	MRE11A	cis	cerebellum	SCAN
rs1270146	MRE11A	cis	Thyroid	GTEx
rs1270146	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs1270146	RP11-685N10.1	cis	lung	GTEx
rs1270146	MRE11A	cis	Esophagus Mucosa	GTEx
rs1270146	MRE11A	cis	Heart Left Ventricle	GTEx
rs1270146	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs1270146	MRE11A	cis	Esophagus Muscularis	GTEx
rs1270146	MRE11A	cis	Stomach	GTEx
rs1270146	ABLIM1	trans	lymphoblastoid	seeQTL
rs1270146	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs1270146	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs1270146	MRE11A	cis	Adipose Subcutaneous	GTEx
rs1270146	RP11-685N10.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94157400-94216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:94157400-94226200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:94157600-94226400	Weak transcription	Esophagus	oesophagus
4	chr11:94162800-94216400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:94162800-94225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:94163400-94221000	Weak transcription	Psoas Muscle	Psoas
7	chr11:94166600-94216400	Weak transcription	Gastric	stomach
8	chr11:94167400-94226400	Weak transcription	Small Intestine	intestine
9	chr11:94169800-94215400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:94178400-94221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:94179000-94226000	Weak transcription	Colonic Mucosa	Colon
12	chr11:94180000-94217600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:94180600-94225800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:94180800-94215800	Weak transcription	Lung	lung
15	chr11:94181000-94226400	Weak transcription	Pancreas	Pancrea
16	chr11:94181800-94215800	Weak transcription	Fetal Intestine Small	intestine
17	chr11:94183200-94222200	Weak transcription	HMEC	breast
18	chr11:94183600-94219800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:94183600-94225800	Weak transcription	NHLF	lung
20	chr11:94184400-94225800	Weak transcription	NHDF-Ad	bronchial
21	chr11:94194000-94217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:94194600-94216400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:94194600-94221200	Weak transcription	Right Ventricle	heart
24	chr11:94194600-94225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:94194600-94225000	Weak transcription	Fetal Brain Male	brain
26	chr11:94195200-94215800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:94197200-94222600	Strong transcription	Dnd41	blood
28	chr11:94197400-94224600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:94197600-94225600	Weak transcription	Fetal Heart	heart
30	chr11:94197800-94216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:94198400-94224400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:94198800-94223800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:94199800-94222400	Weak transcription	NHEK	skin
34	chr11:94203000-94225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:94203200-94216000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:94203400-94215600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:94205000-94224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:94205800-94224000	Strong transcription	Liver	Liver
39	chr11:94206400-94217600	Weak transcription	NH-A	brain
40	chr11:94206600-94216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:94206600-94217400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:94206600-94225800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:94206600-94226000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:94206800-94215600	Weak transcription	HepG2	liver
45	chr11:94206800-94217200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:94206800-94217200	Weak transcription	A549	lung
47	chr11:94206800-94219600	Weak transcription	HUVEC	blood vessel
48	chr11:94206800-94226000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:94207400-94224000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:94207600-94216600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links