Variant report

Variant	rs17244596
Chromosome Location	chr11:73179236-73179237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1002127	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10501411	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10751226	1.00[CHB][hapmap]
rs11235770	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11235809	1.00[CEU][hapmap]
rs11544310	0.81[EUR][1000 genomes]
rs11544311	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11820577	1.00[ASN][1000 genomes]
rs11821094	0.89[CEU][hapmap]
rs11822984	1.00[ASN][1000 genomes]
rs11823913	1.00[CEU][hapmap]
rs11828904	1.00[CEU][hapmap]
rs12099129	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12276892	1.00[CEU][hapmap]
rs12285885	1.00[CEU][hapmap]
rs12288753	1.00[CEU][hapmap]
rs12290623	1.00[CEU][hapmap]
rs12290785	1.00[ASN][1000 genomes]
rs17244602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[ASN][1000 genomes]
rs17310361	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17310374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17851510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs1938777	1.00[CEU][hapmap]
rs2027760	0.89[CEU][hapmap]
rs2027761	0.89[CEU][hapmap]
rs2027763	0.89[CEU][hapmap]
rs2298469	1.00[CEU][hapmap]
rs28400367	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3741149	0.89[CEU][hapmap]
rs3741152	0.89[CEU][hapmap]
rs56742470	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56884659	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57354084	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57491850	0.86[ASN][1000 genomes]
rs57673166	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58334887	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58564192	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60924672	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61345051	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6592526	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7105681	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7110369	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112924	0.81[EUR][1000 genomes]
rs7114009	1.00[CEU][hapmap]
rs7114376	1.00[CEU][hapmap]
rs7115055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7115806	0.89[CEU][hapmap]
rs7118982	1.00[CEU][hapmap]
rs7122825	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7123985	1.00[CEU][hapmap]
rs7125598	1.00[CEU][hapmap]
rs7125949	0.89[CEU][hapmap]
rs7125978	0.89[CEU][hapmap]
rs7129546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129990	0.89[CEU][hapmap]
rs724111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73542929	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73542938	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73542952	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73542960	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73542967	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73542976	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73542979	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73542990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73543000	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544710	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544711	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544729	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544767	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73546735	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73548680	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73548688	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73548693	1.00[ASN][1000 genomes]
rs73550316	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7925226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7930152	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7930454	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7930880	0.89[CEU][hapmap]
rs7930907	0.80[AFR][1000 genomes]
rs7931767	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7933355	1.00[ASN][1000 genomes]
rs7934218	1.00[CEU][hapmap]
rs7935948	1.00[CEU][hapmap]
rs7938391	1.00[CEU][hapmap]
rs7941359	1.00[CEU][hapmap]
rs7944346	1.00[CEU][hapmap]
rs7945825	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7950375	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7951174	0.84[EUR][1000 genomes]

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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17244596	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73123800-73209600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:73131000-73190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:73141800-73181400	Weak transcription	Dnd41	blood
4	chr11:73141800-73183000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
6	chr11:73148000-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:73151000-73187000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:73155600-73181200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:73156000-73187800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:73161200-73180600	Weak transcription	Fetal Lung	lung
11	chr11:73163600-73179400	Weak transcription	Lung	lung
12	chr11:73163600-73179800	Weak transcription	Aorta	Aorta
13	chr11:73163600-73180000	Weak transcription	Fetal Brain Female	brain
14	chr11:73163600-73180800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
16	chr11:73165200-73186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:73168600-73189800	Weak transcription	Hela-S3	cervix
18	chr11:73170400-73185800	Weak transcription	HepG2	liver
19	chr11:73172800-73218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:73173600-73181200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:73173800-73184400	Weak transcription	Spleen	Spleen
22	chr11:73174200-73186800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:73174600-73187800	Weak transcription	Primary T cells from cord blood	blood
24	chr11:73175000-73179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:73175800-73179800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:73176000-73180600	Enhancers	Adipose Nuclei	Adipose
27	chr11:73176000-73180600	Enhancers	Brain Hippocampus Middle	brain
28	chr11:73176000-73180600	Enhancers	Brain Substantia Nigra	brain
29	chr11:73176200-73180400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:73176400-73186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:73177000-73179800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:73177000-73189800	Weak transcription	Fetal Heart	heart
33	chr11:73177200-73179400	Weak transcription	Brain Angular Gyrus	brain
34	chr11:73177400-73179400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:73177400-73180000	Weak transcription	HSMMtube	muscle
36	chr11:73177400-73180600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:73177400-73180600	Weak transcription	HSMM	muscle
38	chr11:73177400-73181200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:73177400-73189800	Weak transcription	HMEC	breast
40	chr11:73177400-73190000	Weak transcription	Osteobl	bone
41	chr11:73177400-73191400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:73177400-73191800	Weak transcription	NHDF-Ad	bronchial
43	chr11:73177600-73186800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:73178000-73179800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:73178000-73180400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr11:73178000-73180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:73178000-73184600	Weak transcription	Fetal Thymus	thymus
48	chr11:73178200-73179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:73178200-73180000	Strong transcription	Primary B cells from cord blood	blood
50	chr11:73178400-73180200	Enhancers	Right Ventricle	heart

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