Variant report

Variant	rs73542979
Chromosome Location	chr11:73127526-73127527
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73122593..73125409-chr11:73127410..73129119,2	K562	blood:
2	chr11:73087075..73088800-chr11:73125067..73127654,2	MCF-7	breast:
3	chr11:73122359..73124093-chr11:73126159..73129119,2	K562	blood:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1002127	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544310	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12099129	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288753	0.84[EUR][1000 genomes]
rs12290623	0.83[EUR][1000 genomes]
rs17244596	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17244602	0.83[AMR][1000 genomes]
rs17851510	0.87[EUR][1000 genomes]
rs1938777	0.80[EUR][1000 genomes]
rs2298469	0.84[EUR][1000 genomes]
rs28400367	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742470	1.00[AMR][1000 genomes]
rs57354084	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58334887	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58564192	0.83[AMR][1000 genomes]
rs60924672	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61345051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592526	0.91[AMR][1000 genomes]
rs7110369	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7112924	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114009	0.83[EUR][1000 genomes]
rs7115055	0.83[AMR][1000 genomes]
rs7118982	0.84[EUR][1000 genomes]
rs7129546	1.00[AMR][1000 genomes]
rs7129990	0.83[EUR][1000 genomes]
rs73542929	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542938	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542952	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542990	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73544710	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73544711	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73544716	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73544720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73544729	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73544767	0.91[AMR][1000 genomes]
rs73544783	0.83[AMR][1000 genomes]
rs7925226	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941454	0.82[EUR][1000 genomes]
rs7951072	0.83[AMR][1000 genomes]
rs7951174	0.90[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73542979	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73113600-73132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:73115200-73132200	Weak transcription	Fetal Heart	heart
7	chr11:73115200-73132400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:73115200-73149400	Weak transcription	Fetal Kidney	kidney
9	chr11:73116800-73132600	Strong transcription	Primary B cells from cord blood	blood
10	chr11:73117000-73131400	Weak transcription	A549	lung
11	chr11:73117800-73130200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:73118800-73128200	Weak transcription	Fetal Brain Male	brain
13	chr11:73118800-73137600	Weak transcription	Colonic Mucosa	Colon
14	chr11:73120200-73127800	Weak transcription	HMEC	breast
15	chr11:73120800-73127800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:73120800-73128800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:73120800-73129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:73120800-73129000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:73120800-73129200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:73120800-73132600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:73120800-73133000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:73120800-73133000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:73120800-73140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:73120800-73141200	Weak transcription	Esophagus	oesophagus
25	chr11:73120800-73149000	Weak transcription	Fetal Lung	lung
26	chr11:73120800-73149800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:73120800-73150000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:73121000-73129000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:73121000-73133000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:73121000-73150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:73121200-73129000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:73121600-73132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:73121800-73128200	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:73122000-73128400	Enhancers	Brain Substantia Nigra	brain
35	chr11:73122200-73129000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:73122200-73131800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:73122400-73127800	Enhancers	Brain Angular Gyrus	brain
38	chr11:73122400-73129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:73122400-73129200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:73122400-73129200	Weak transcription	Pancreas	Pancrea
41	chr11:73122400-73134400	Weak transcription	NHEK	skin
42	chr11:73122400-73163200	Weak transcription	Aorta	Aorta
43	chr11:73122600-73128800	Weak transcription	Liver	Liver
44	chr11:73122600-73132600	Weak transcription	Lung	lung
45	chr11:73122600-73134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:73122800-73129200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:73122800-73129200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:73122800-73139000	Weak transcription	Spleen	Spleen
49	chr11:73122800-73149600	Weak transcription	Gastric	stomach
50	chr11:73123000-73128600	Enhancers	Osteobl	bone

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