Variant report

Variant	rs1044265
Chromosome Location	chr11:76262128-76262129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76261079..76263436-chr11:76264364..76265867,2	K562	blood:
2	chr11:76262034..76262940-chr11:76309241..76310049,2	K562	blood:
3	chr11:76250200..76253023-chr11:76260666..76263366,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10793164	0.85[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs10793167	0.86[YRI][hapmap]
rs10793169	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs10793171	0.93[ASW][hapmap]
rs10899219	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10899220	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11606394	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]
rs2155220	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2251075	0.89[CEU][hapmap];0.80[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2508738	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508740	0.81[ASW][hapmap]
rs2508741	0.81[ASW][hapmap]
rs2508753	0.85[AFR][1000 genomes]
rs2508755	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508756	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2508760	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs2508761	0.93[ASW][hapmap]
rs2513505	0.84[AFR][1000 genomes]
rs2513508	0.93[ASW][hapmap]
rs2513513	0.93[ASW][hapmap]
rs2513515	0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2513525	1.00[ASW][hapmap]
rs3016373	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4245443	0.93[ASW][hapmap]
rs4272809	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs4300410	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs4625500	0.91[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4945087	0.86[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];0.98[LWK][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7107058	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs7926009	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs7940390	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8848	0.93[ASW][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	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
2	esv1848387	chr11:76243699-76262652	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1044265	ARHGEF17	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76224400-76262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:76224400-76263800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:76230000-76265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:76233800-76262400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:76233800-76262600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:76233800-76263200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:76234000-76262600	Strong transcription	Dnd41	blood
8	chr11:76234800-76263000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:76239600-76262200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:76252000-76262600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:76252600-76263000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:76254800-76265800	Weak transcription	Fetal Heart	heart
13	chr11:76254800-76269800	Weak transcription	NHDF-Ad	bronchial
14	chr11:76255200-76265200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:76255800-76263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:76256000-76264800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:76256000-76265400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:76256000-76266400	Weak transcription	A549	lung
19	chr11:76256000-76273400	Weak transcription	Psoas Muscle	Psoas
20	chr11:76256200-76265800	Weak transcription	Colonic Mucosa	Colon
21	chr11:76256200-76265800	Weak transcription	Fetal Brain Male	brain
22	chr11:76257200-76266400	Weak transcription	Brain Angular Gyrus	brain
23	chr11:76257200-76266600	Weak transcription	Small Intestine	intestine
24	chr11:76257200-76270200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:76257200-76272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:76257400-76262400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:76257400-76262600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:76257400-76262600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:76257400-76262800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:76257400-76263000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:76257400-76263400	Weak transcription	Pancreas	Pancrea
32	chr11:76257400-76263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:76257400-76264000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:76257400-76264400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:76257400-76264600	Weak transcription	Fetal Stomach	stomach
36	chr11:76257400-76264800	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:76257400-76265600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:76257400-76265800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:76257400-76267800	Weak transcription	Esophagus	oesophagus
40	chr11:76257400-76269800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:76257400-76269800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:76257400-76270600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:76257400-76270800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:76257400-76271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:76257400-76271000	Weak transcription	HSMMtube	muscle
46	chr11:76257400-76271000	Weak transcription	NHEK	skin
47	chr11:76257400-76271800	Weak transcription	Lung	lung
48	chr11:76257400-76272200	Weak transcription	Spleen	Spleen
49	chr11:76257400-76272400	Weak transcription	Ovary	ovary
50	chr11:76257600-76262400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links