Variant report

Variant	rs10793171
Chromosome Location	chr11:76191637-76191638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76191502..76194293-chr11:76198687..76201522,2	MCF-7	breast:
2	chr11:76190688..76192947-chr11:76198433..76201383,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10160382	0.88[MEX][hapmap];0.82[TSI][hapmap]
rs1044265	0.93[ASW][hapmap]
rs10793167	0.88[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10793169	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10899217	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10899222	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10899225	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10899227	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11236749	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11236752	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11606394	0.93[ASW][hapmap]
rs17749618	0.84[CEU][hapmap]
rs1939467	0.88[CEU][hapmap]
rs1939468	0.84[CEU][hapmap]
rs2508740	0.87[ASW][hapmap];0.96[CEU][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2508741	0.87[ASW][hapmap];0.96[CEU][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2508753	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2508756	0.93[ASW][hapmap]
rs2508759	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2508760	0.93[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2508761	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508762	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2513504	0.92[CEU][hapmap]
rs2513505	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2513508	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513513	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513520	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2513523	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513525	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs3753051	0.84[CEU][hapmap]
rs3814711	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4245443	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272809	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4300410	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4945087	0.80[ASW][hapmap]
rs4945090	0.96[CEU][hapmap];0.81[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5023625	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6592635	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7106564	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107058	0.93[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7109548	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7115331	0.81[CEU][hapmap]
rs7123361	0.92[CEU][hapmap]
rs7125552	0.88[CEU][hapmap]
rs7926009	0.93[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7942257	0.85[CEU][hapmap]
rs7949258	0.88[CEU][hapmap]
rs8848	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][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	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	esv3383733	chr11:76186353-76225544	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10793171	ARHGEF17	cis	cerebellum	SCAN
rs10793171	ALG8	cis	cerebellum	SCAN
rs10793171	ARRB1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76166800-76219400	Weak transcription	Small Intestine	intestine
2	chr11:76167800-76192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:76168800-76234800	Weak transcription	Psoas Muscle	Psoas
4	chr11:76171200-76221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:76177400-76195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:76180200-76204200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:76182800-76192400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:76183800-76194400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:76184400-76235000	Weak transcription	NHEK	skin
10	chr11:76184800-76202600	Weak transcription	Aorta	Aorta
11	chr11:76185000-76204000	Weak transcription	Right Ventricle	heart
12	chr11:76185400-76193400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:76187000-76192400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:76188400-76193000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:76188800-76191800	Strong transcription	Fetal Thymus	thymus
16	chr11:76188800-76192000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:76189000-76191800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:76189000-76192000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:76189000-76192200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:76189000-76192400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:76189000-76192800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:76189000-76231400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:76189200-76192000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:76189200-76211600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:76189400-76192200	Strong transcription	Fetal Stomach	stomach
26	chr11:76189400-76223000	Weak transcription	HUVEC	blood vessel
27	chr11:76189600-76193200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:76190000-76192400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:76190000-76192600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:76190000-76192800	Strong transcription	Fetal Lung	lung
31	chr11:76190000-76193800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:76190200-76191800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:76190200-76191800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:76190200-76191800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:76190200-76191800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:76190200-76191800	Strong transcription	Fetal Intestine Large	intestine
37	chr11:76190200-76192000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:76190200-76192200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:76190200-76192400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:76190200-76192400	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:76190200-76192400	Strong transcription	Thymus	Thymus
42	chr11:76190200-76192600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:76190200-76192600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:76190200-76192600	Strong transcription	Adipose Nuclei	Adipose
45	chr11:76190200-76192600	Strong transcription	Liver	Liver
46	chr11:76190200-76192600	Strong transcription	Brain Anterior Caudate	brain
47	chr11:76190200-76192600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:76190200-76192600	Strong transcription	Ovary	ovary
49	chr11:76190200-76192800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr11:76190200-76192800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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