Variant report

Variant	rs11824050
Chromosome Location	chr11:73011106-73011107
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73006667..73009055-chr11:73009354..73011828,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1002126	1.00[JPT][hapmap]
rs10047442	0.85[CHB][hapmap]
rs10793060	0.85[CHB][hapmap]
rs10898917	0.96[ASN][1000 genomes]
rs10898920	0.85[CHB][hapmap]
rs11235729	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11235738	1.00[JPT][hapmap]
rs11235745	1.00[JPT][hapmap]
rs11235746	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11235759	1.00[JPT][hapmap]
rs11235770	0.82[CHB][hapmap]
rs11235775	1.00[JPT][hapmap]
rs11820037	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820929	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11821094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11823913	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11823923	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824614	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826896	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11826909	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11827650	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828904	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12269884	1.00[JPT][hapmap]
rs12275766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282282	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[JPT][hapmap]
rs12288753	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290623	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12290835	1.00[JPT][hapmap]
rs12293998	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294659	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938777	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2027760	0.96[ASN][1000 genomes]
rs2027761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2027763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2298469	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2298807	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741148	0.85[CHB][hapmap]
rs3741149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3825005	1.00[JPT][hapmap]
rs3933402	1.00[JPT][hapmap]
rs55771351	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363880	0.96[ASN][1000 genomes]
rs56397594	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56801796	0.81[EUR][1000 genomes]
rs57592318	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57893472	0.96[ASN][1000 genomes]
rs58364325	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60700454	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61037777	0.96[ASN][1000 genomes]
rs61131329	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61705659	0.92[ASN][1000 genomes]
rs6592519	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592520	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592521	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101831	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7102197	1.00[JPT][hapmap]
rs7102787	0.96[ASN][1000 genomes]
rs7105681	0.96[ASN][1000 genomes]
rs7105705	0.96[ASN][1000 genomes]
rs7107905	0.96[ASN][1000 genomes]
rs7113420	1.00[JPT][hapmap]
rs7114009	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7115605	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7122560	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7123298	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7125598	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7125978	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7129990	0.82[CHB][hapmap]
rs7131383	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	1.00[JPT][hapmap]
rs725103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925573	0.85[CHB][hapmap]
rs7930880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7933754	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934218	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7936102	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941359	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7944099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949364	0.96[ASN][1000 genomes]
rs7952686	1.00[JPT][hapmap]
rs876480	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880317	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs947837	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9888218	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11824050	ARHGEF17	cis	multi-tissue	Pritchard

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73000600-73011200	Weak transcription	Aorta	Aorta
2	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
3	chr11:73004000-73011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:73004400-73011400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73006600-73011400	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:73006600-73011600	Weak transcription	HSMMtube	muscle
7	chr11:73006600-73018000	Weak transcription	Right Atrium	heart
8	chr11:73006800-73017600	Weak transcription	Fetal Heart	heart
9	chr11:73007000-73011400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:73007000-73017800	Weak transcription	Osteobl	bone
11	chr11:73007200-73011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:73007200-73011600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:73008200-73017800	Weak transcription	Right Ventricle	heart
14	chr11:73009000-73012200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:73009400-73011800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:73009400-73011800	Weak transcription	Spleen	Spleen
17	chr11:73009400-73017200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:73009400-73017400	Weak transcription	A549	lung
19	chr11:73009800-73011600	Weak transcription	Fetal Intestine Large	intestine
20	chr11:73009800-73011800	Weak transcription	Placenta	Placenta
21	chr11:73010200-73012200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:73010200-73012200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:73010200-73017400	Weak transcription	Fetal Intestine Small	intestine
24	chr11:73010600-73011800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:73010800-73011200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:73010800-73011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:73010800-73011800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:73010800-73011800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:73010800-73012000	Enhancers	Adipose Nuclei	Adipose
30	chr11:73011000-73011400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:73011000-73011800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:73011000-73012000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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