Variant report

Variant	rs73550316
Chromosome Location	chr11:73299799-73299800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10501411	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235809	0.83[EUR][1000 genomes]
rs11544311	0.83[AMR][1000 genomes]
rs11820577	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822984	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276892	0.82[EUR][1000 genomes]
rs12285885	0.83[EUR][1000 genomes]
rs12290785	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244596	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17244602	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310361	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17310374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742470	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491850	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57673166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334887	1.00[ASN][1000 genomes]
rs58564192	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59806295	0.83[EUR][1000 genomes]
rs61516411	0.83[EUR][1000 genomes]
rs6592526	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110369	1.00[ASN][1000 genomes]
rs7115055	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118057	0.83[AFR][1000 genomes]
rs7129546	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	1.00[ASN][1000 genomes]
rs73544710	1.00[ASN][1000 genomes]
rs73544711	1.00[ASN][1000 genomes]
rs73544716	1.00[ASN][1000 genomes]
rs73544720	1.00[ASN][1000 genomes]
rs73544729	1.00[ASN][1000 genomes]
rs73544767	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546735	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548680	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548693	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930907	0.92[AFR][1000 genomes]
rs7931767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933355	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943721	0.83[AFR][1000 genomes]
rs7945825	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv983188	chr11:73273934-73307064	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73550316	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:73263200-73306000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:73266600-73307800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:73272200-73307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:73275400-73307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:73276400-73307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:73277400-73307800	Weak transcription	Fetal Intestine Large	intestine
9	chr11:73279400-73307000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:73281600-73307800	Weak transcription	Hela-S3	cervix
11	chr11:73285200-73303600	Weak transcription	Left Ventricle	heart
12	chr11:73285200-73306600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:73286800-73307600	Weak transcription	Lung	lung
14	chr11:73287800-73306200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:73288000-73306200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:73288400-73307800	Weak transcription	Aorta	Aorta
17	chr11:73288800-73307600	Weak transcription	Fetal Kidney	kidney
18	chr11:73289000-73304800	Weak transcription	Thymus	Thymus
19	chr11:73289000-73305800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73289200-73300800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:73289200-73304600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:73289200-73304800	Weak transcription	Dnd41	blood
23	chr11:73289400-73304400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:73289400-73307000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr11:73289600-73306800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:73290000-73304400	Weak transcription	Fetal Lung	lung
27	chr11:73290000-73304800	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:73290000-73306600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:73290000-73308000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:73290200-73303400	Weak transcription	Fetal Thymus	thymus
31	chr11:73290200-73304600	Weak transcription	Brain Germinal Matrix	brain
32	chr11:73290200-73306600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:73290200-73307000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:73290200-73307000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:73290200-73307000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:73290400-73302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:73290400-73304600	Weak transcription	Fetal Brain Female	brain
38	chr11:73290400-73308000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:73291400-73305200	Weak transcription	Ovary	ovary
40	chr11:73291400-73307600	Weak transcription	Pancreas	Pancrea
41	chr11:73291800-73304200	Weak transcription	Primary T cells from cord blood	blood
42	chr11:73294200-73305200	Weak transcription	Psoas Muscle	Psoas
43	chr11:73294200-73307800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:73294800-73299800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:73295000-73304600	Weak transcription	Brain Substantia Nigra	brain
46	chr11:73297200-73302800	Weak transcription	Fetal Brain Male	brain
47	chr11:73297400-73307600	Weak transcription	Osteobl	bone
48	chr11:73297600-73307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:73297800-73299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:73297800-73304400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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