Variant report

Variant	rs10217750
Chromosome Location	chr9:116234304-116234305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:205)

rs_ID	r²[population]
rs10125960	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10217237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10481676	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10481677	0.90[AFR][1000 genomes]
rs10817496	1.00[ASN][1000 genomes]
rs10981793	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981794	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981803	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10981807	0.93[AFR][1000 genomes]
rs10981808	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10981814	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs10981815	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs10981816	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs10981817	0.81[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs10981819	0.81[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes]
rs10981820	0.93[AFR][1000 genomes]
rs10981821	0.93[AFR][1000 genomes]
rs10981825	0.91[AFR][1000 genomes]
rs10981826	0.91[AFR][1000 genomes]
rs10981827	0.91[AFR][1000 genomes]
rs10981830	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs10981832	0.86[AFR][1000 genomes]
rs10981840	1.00[ASN][1000 genomes]
rs10981841	1.00[ASN][1000 genomes]
rs10981843	1.00[ASN][1000 genomes]
rs10981844	1.00[ASN][1000 genomes]
rs10981845	1.00[ASN][1000 genomes]
rs10981846	1.00[ASN][1000 genomes]
rs10981847	1.00[ASN][1000 genomes]
rs10981850	1.00[ASN][1000 genomes]
rs12335991	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336719	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12336983	1.00[ASN][1000 genomes]
rs12337340	0.81[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs12338221	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338588	0.93[AFR][1000 genomes]
rs12338697	0.81[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs12338701	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs12338788	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12339493	0.81[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs12339617	0.81[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12339851	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12340996	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs12341332	0.81[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs12342508	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12342699	0.81[CEU][hapmap];0.93[AFR][1000 genomes]
rs12343129	0.81[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes]
rs12343141	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12344334	0.91[AFR][1000 genomes]
rs12344578	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12344964	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345524	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12346076	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12346087	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs12346939	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12347382	0.93[AFR][1000 genomes]
rs12347895	0.81[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs12351728	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs16907354	1.00[ASN][1000 genomes]
rs17766289	1.00[ASN][1000 genomes]
rs1890992	0.81[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes]
rs2050865	0.80[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2050866	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs28694002	0.93[AFR][1000 genomes]
rs28709996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28714985	0.93[AFR][1000 genomes]
rs35270441	0.97[AFR][1000 genomes]
rs36062487	1.00[ASN][1000 genomes]
rs3983381	0.81[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs41276817	1.00[ASN][1000 genomes]
rs41297197	1.00[ASN][1000 genomes]
rs41301525	0.90[AFR][1000 genomes]
rs41305473	0.90[AFR][1000 genomes]
rs4348575	1.00[ASN][1000 genomes]
rs4596719	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs4609260	1.00[ASN][1000 genomes]
rs4979257	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs511561	1.00[ASN][1000 genomes]
rs530456	1.00[ASN][1000 genomes]
rs538711	1.00[ASN][1000 genomes]
rs551960	1.00[ASN][1000 genomes]
rs55676913	1.00[AFR][1000 genomes]
rs55714377	0.91[AFR][1000 genomes]
rs55777057	0.91[AFR][1000 genomes]
rs55916010	1.00[ASN][1000 genomes]
rs55931715	0.91[AFR][1000 genomes]
rs55977108	0.93[AFR][1000 genomes]
rs56038206	1.00[ASN][1000 genomes]
rs56155263	0.90[AFR][1000 genomes]
rs56276438	0.91[AFR][1000 genomes]
rs56390346	0.91[AFR][1000 genomes]
rs57989349	1.00[ASN][1000 genomes]
rs586265	1.00[ASN][1000 genomes]
rs60302610	1.00[ASN][1000 genomes]
rs608290	1.00[ASN][1000 genomes]
rs611335	1.00[ASN][1000 genomes]
rs6478011	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6478012	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478016	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6478017	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478022	0.84[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs6478023	0.81[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs653971	1.00[ASN][1000 genomes]
rs664850	1.00[ASN][1000 genomes]
rs670719	1.00[ASN][1000 genomes]
rs7018783	0.81[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7020623	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7021491	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7023661	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7024445	0.81[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs7024612	0.94[YRI][hapmap];0.91[AFR][1000 genomes]
rs7024996	0.81[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7025170	0.91[AFR][1000 genomes]
rs7025745	0.93[AFR][1000 genomes]
rs7026568	0.97[AFR][1000 genomes]
rs7026656	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7027024	0.80[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7027340	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7028327	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7029685	0.93[AFR][1000 genomes]
rs7033679	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7037441	0.86[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7037761	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7040031	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7040635	0.89[AFR][1000 genomes]
rs7041833	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs7042290	1.00[AFR][1000 genomes]
rs7042695	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7042968	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7043140	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7045347	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7046202	0.81[CEU][hapmap];1.00[AFR][1000 genomes]
rs7046427	0.81[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7047062	0.81[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7048208	0.81[CEU][hapmap];0.81[AFR][1000 genomes]
rs7049221	0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs72760096	0.96[AFR][1000 genomes]
rs72761903	0.96[AFR][1000 genomes]
rs72761905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761906	0.93[AFR][1000 genomes]
rs72761963	0.93[AFR][1000 genomes]
rs72761964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761965	0.94[AFR][1000 genomes]
rs72761966	0.97[AFR][1000 genomes]
rs72761969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761987	0.97[AFR][1000 genomes]
rs72761992	0.93[AFR][1000 genomes]
rs72761994	0.93[AFR][1000 genomes]
rs72761995	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72761999	0.87[AFR][1000 genomes]
rs72762002	0.93[AFR][1000 genomes]
rs72763803	0.91[AFR][1000 genomes]
rs72763804	0.93[AFR][1000 genomes]
rs72763826	0.90[AFR][1000 genomes]
rs72763828	0.88[AFR][1000 genomes]
rs72763831	0.90[AFR][1000 genomes]
rs72763841	0.87[AFR][1000 genomes]
rs72763842	0.90[AFR][1000 genomes]
rs72763843	0.81[AFR][1000 genomes]
rs72763846	0.89[AFR][1000 genomes]
rs7848203	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7849841	1.00[AFR][1000 genomes]
rs7851718	0.81[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs7851937	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs7852118	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7853373	0.93[AFR][1000 genomes]
rs7853792	0.90[YRI][hapmap];0.94[AFR][1000 genomes]
rs7854197	0.81[CEU][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7854524	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs7855325	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs7855434	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7856689	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7857217	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs7857943	0.81[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs7860673	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7861248	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7863159	0.81[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7864467	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7864645	1.00[AFR][1000 genomes]
rs7864816	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7867203	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867353	0.81[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7870142	0.91[AFR][1000 genomes]
rs7870227	0.81[CEU][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs7870265	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870451	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs7870912	0.95[YRI][hapmap]
rs7871186	0.81[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs7872084	0.81[AFR][1000 genomes]
rs7872283	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs883025	0.94[YRI][hapmap];0.89[AFR][1000 genomes]
rs884898	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs884899	0.89[AFR][1000 genomes]
rs9299215	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs944345	0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs944346	0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs9657641	0.81[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs9657658	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs9657659	0.81[CEU][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs9785299	0.95[YRI][hapmap];0.87[AFR][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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116219400-116240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:116226600-116241400	Weak transcription	Lung	lung
3	chr9:116226800-116235200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:116226800-116241400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
6	chr9:116228000-116236600	Weak transcription	Psoas Muscle	Psoas
7	chr9:116228400-116238200	Weak transcription	Fetal Intestine Small	intestine
8	chr9:116228400-116241400	Weak transcription	Fetal Thymus	thymus
9	chr9:116228400-116245000	Weak transcription	Fetal Intestine Large	intestine
10	chr9:116228600-116236200	Weak transcription	Placenta	Placenta
11	chr9:116228600-116241400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:116228800-116236000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:116231400-116236600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:116231600-116236200	Weak transcription	Fetal Stomach	stomach
15	chr9:116231600-116236600	Weak transcription	Left Ventricle	heart
16	chr9:116231600-116236800	Weak transcription	Right Ventricle	heart
17	chr9:116231600-116237000	Weak transcription	Right Atrium	heart
18	chr9:116231600-116241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:116231600-116241400	Weak transcription	Esophagus	oesophagus
20	chr9:116231600-116241400	Weak transcription	Gastric	stomach
21	chr9:116231600-116249800	Weak transcription	Hela-S3	cervix
22	chr9:116231800-116236200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:116231800-116236400	Weak transcription	HSMMtube	muscle
24	chr9:116231800-116243000	Weak transcription	A549	lung
25	chr9:116231800-116246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:116232400-116235000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr9:116232400-116238400	Weak transcription	Pancreas	Pancrea
28	chr9:116232400-116239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:116232600-116236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:116233000-116236000	Weak transcription	HepG2	liver
31	chr9:116233800-116234800	Weak transcription	Fetal Heart	heart
32	chr9:116233800-116235000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:116233800-116235600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:116234000-116235600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:116234000-116241400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:116234200-116234400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr9:116234200-116235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:116234200-116236400	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:116234200-116236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:116234200-116236600	Weak transcription	Aorta	Aorta
41	chr9:116234200-116239000	Weak transcription	Stomach Mucosa	stomach
42	chr9:116234200-116241400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr9:116234200-116241600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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