Variant report

Variant	rs11606394
Chromosome Location	chr11:76179116-76179117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76173540..76176471-chr11:76178229..76181112,2	K562	blood:
2	chr11:76154568..76158629-chr11:76178125..76181479,4	K562	blood:
3	chr11:76177261..76180116-chr11:76185767..76188611,2	MCF-7	breast:
4	chr11:76178422..76180245-chr11:76180873..76183428,2	K562	blood:
5	chr11:76178745..76180889-chr11:76180922..76183428,2	K562	blood:
6	chr11:76154568..76158629-chr11:76177226..76180537,4	K562	blood:
7	chr11:76090811..76092445-chr11:76176927..76179317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255135	Chromatin interaction
ENSG00000137492	Chromatin interaction
ENSG00000179240	Chromatin interaction
ENSG00000158636	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1044265	1.00[ASW][hapmap];0.89[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10793164	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793166	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10793167	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs10793169	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs10793171	0.93[ASW][hapmap]
rs10899219	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10899220	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899225	0.89[AFR][1000 genomes]
rs11236749	0.85[AFR][1000 genomes]
rs11236761	0.94[ASN][1000 genomes]
rs2155220	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251075	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2508738	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508740	0.81[ASW][hapmap]
rs2508741	0.81[ASW][hapmap]
rs2508755	0.96[CEU][hapmap]
rs2508756	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2508760	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes]
rs2508761	0.93[ASW][hapmap]
rs2513505	0.83[AFR][1000 genomes]
rs2513508	0.93[ASW][hapmap];0.83[YRI][hapmap]
rs2513511	0.97[CHD][hapmap];0.86[JPT][hapmap]
rs2513513	0.93[ASW][hapmap]
rs2513514	1.00[CHD][hapmap];0.86[JPT][hapmap]
rs2513515	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513520	0.88[AFR][1000 genomes]
rs2513525	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs3016373	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4245443	0.93[ASW][hapmap]
rs4272809	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs4300410	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs4625500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945087	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945090	0.87[YRI][hapmap];0.89[AFR][1000 genomes]
rs5023625	0.89[AFR][1000 genomes]
rs7107058	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs7109548	0.81[AFR][1000 genomes]
rs7926009	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs7928101	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7940390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8848	0.93[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11606394	ARHGEF17	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76157200-76183400	Weak transcription	Gastric	stomach
2	chr11:76157200-76183600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:76157200-76183600	Weak transcription	Spleen	Spleen
4	chr11:76157200-76183800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:76157200-76190200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:76157200-76191200	Weak transcription	Stomach Mucosa	stomach
7	chr11:76157400-76179800	Weak transcription	HSMMtube	muscle
8	chr11:76157400-76183400	Weak transcription	Right Ventricle	heart
9	chr11:76157400-76183600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:76157400-76183600	Weak transcription	Esophagus	oesophagus
11	chr11:76157400-76190200	Weak transcription	Colonic Mucosa	Colon
12	chr11:76158000-76181000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr11:76158200-76179400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:76158200-76190200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:76159800-76190400	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:76162200-76183600	Weak transcription	Lung	lung
17	chr11:76164400-76182400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:76164400-76183600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:76164600-76182800	Weak transcription	Fetal Brain Male	brain
20	chr11:76164800-76188600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:76165600-76183400	Weak transcription	Aorta	Aorta
22	chr11:76165600-76183400	Weak transcription	Pancreas	Pancrea
23	chr11:76166800-76183600	Weak transcription	Osteobl	bone
24	chr11:76166800-76219400	Weak transcription	Small Intestine	intestine
25	chr11:76167000-76183800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:76167200-76190200	Weak transcription	NHLF	lung
27	chr11:76167800-76192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:76168600-76179400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:76168600-76187000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:76168800-76234800	Weak transcription	Psoas Muscle	Psoas
31	chr11:76169200-76180400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:76169800-76182800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr11:76170400-76180800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:76170400-76182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:76170600-76182200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr11:76170600-76183600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:76171200-76221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:76171400-76179800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:76171400-76183400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:76171400-76183600	Weak transcription	Brain Angular Gyrus	brain
41	chr11:76171400-76183600	Weak transcription	NHEK	skin
42	chr11:76171400-76190200	Weak transcription	Fetal Heart	heart
43	chr11:76172000-76183600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:76172400-76187800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:76172600-76179800	Weak transcription	Fetal Intestine Small	intestine
46	chr11:76172800-76183600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:76173200-76187000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:76173400-76179400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:76173400-76179400	Strong transcription	Fetal Intestine Large	intestine
50	chr11:76173400-76180400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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