Variant report

Variant	rs73544716
Chromosome Location	chr11:73170061-73170062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73166334..73168840-chr11:73169378..73172433,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10501411	1.00[ASN][1000 genomes]
rs11235770	0.81[EUR][1000 genomes]
rs11544310	0.84[EUR][1000 genomes]
rs11544311	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11820577	1.00[ASN][1000 genomes]
rs11822984	1.00[ASN][1000 genomes]
rs11823913	0.82[EUR][1000 genomes]
rs11828904	0.82[EUR][1000 genomes]
rs12099129	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12288753	0.82[EUR][1000 genomes]
rs12290623	0.81[EUR][1000 genomes]
rs12290785	1.00[ASN][1000 genomes]
rs17244596	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244602	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	1.00[ASN][1000 genomes]
rs17310374	1.00[ASN][1000 genomes]
rs17851510	0.84[EUR][1000 genomes]
rs2298469	0.82[EUR][1000 genomes]
rs28400367	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56742470	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	1.00[ASN][1000 genomes]
rs56884659	1.00[ASN][1000 genomes]
rs57354084	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57491850	0.86[ASN][1000 genomes]
rs57673166	1.00[ASN][1000 genomes]
rs58334887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58564192	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60924672	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61345051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6592526	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	1.00[ASN][1000 genomes]
rs7110369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112924	0.84[EUR][1000 genomes]
rs7114009	0.81[EUR][1000 genomes]
rs7115055	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118982	0.82[EUR][1000 genomes]
rs7129546	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129990	0.81[EUR][1000 genomes]
rs724111	1.00[ASN][1000 genomes]
rs73542929	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73542938	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73542952	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73542960	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73542967	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73542976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73542979	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73542990	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73543000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544710	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544711	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544729	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544767	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	1.00[ASN][1000 genomes]
rs73546735	1.00[ASN][1000 genomes]
rs73548680	1.00[ASN][1000 genomes]
rs73548688	1.00[ASN][1000 genomes]
rs73548693	1.00[ASN][1000 genomes]
rs73550316	1.00[ASN][1000 genomes]
rs7925226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7930152	1.00[ASN][1000 genomes]
rs7931767	1.00[ASN][1000 genomes]
rs7933355	1.00[ASN][1000 genomes]
rs7941359	0.81[EUR][1000 genomes]
rs7945825	1.00[ASN][1000 genomes]
rs7950375	1.00[ASN][1000 genomes]
rs7951072	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7951174	0.87[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
rs73544716	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:52 , 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	chr11:73138000-73176800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:73139200-73177800	Weak transcription	Fetal Thymus	thymus
5	chr11:73141600-73173600	Weak transcription	Pancreas	Pancrea
6	chr11:73141800-73179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:73141800-73181400	Weak transcription	Dnd41	blood
8	chr11:73141800-73183000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:73141800-73231600	Weak transcription	Thymus	Thymus
10	chr11:73148000-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:73150000-73172400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:73150000-73175800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:73150400-73172200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:73150400-73178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:73151000-73187000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:73155600-73181200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:73155800-73171800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:73156000-73187800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:73157800-73171800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:73157800-73172000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:73157800-73172000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:73157800-73172200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:73157800-73172800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:73158200-73172600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:73158200-73174400	Weak transcription	Ovary	ovary
26	chr11:73158600-73172200	Weak transcription	Psoas Muscle	Psoas
27	chr11:73161200-73180600	Weak transcription	Fetal Lung	lung
28	chr11:73161400-73177200	Weak transcription	Left Ventricle	heart
29	chr11:73163000-73173000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:73163600-73179400	Weak transcription	Lung	lung
31	chr11:73163600-73179800	Weak transcription	Aorta	Aorta
32	chr11:73163600-73180000	Weak transcription	Fetal Brain Female	brain
33	chr11:73163600-73180800	Weak transcription	Fetal Intestine Small	intestine
34	chr11:73163800-73172000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:73163800-73225600	Weak transcription	Fetal Stomach	stomach
36	chr11:73164200-73174000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:73165200-73172000	Weak transcription	Adipose Nuclei	Adipose
38	chr11:73165200-73186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:73166000-73172200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:73166400-73178600	Weak transcription	Right Atrium	heart
41	chr11:73166600-73176000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:73167000-73173200	Weak transcription	Primary T cells from cord blood	blood
43	chr11:73167000-73176000	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:73167000-73176000	Weak transcription	Brain Substantia Nigra	brain
45	chr11:73167600-73176200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:73168000-73172800	Weak transcription	Fetal Heart	heart
47	chr11:73168000-73173200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:73168000-73175600	Weak transcription	Brain Anterior Caudate	brain
49	chr11:73168000-73176200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:73168600-73189800	Weak transcription	Hela-S3	cervix

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