Variant report

Variant	rs72761997
Chromosome Location	chr9:116299953-116299954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116299691..116302275-chr9:116311479..116313038,2	MCF-7	breast:
2	chr9:116299205..116302813-chr9:116303300..116305128,3	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10116799	0.87[EUR][1000 genomes]
rs10125960	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10217341	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10481676	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10481677	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981789	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981803	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981807	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981808	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981814	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981816	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981817	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981819	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981820	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981821	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10981825	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981826	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981827	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981828	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981829	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981831	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981832	0.92[EUR][1000 genomes]
rs12335716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12336719	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12337340	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12338588	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12338697	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12338701	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12339493	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12339501	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12339617	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12340996	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12341332	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12341490	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12342508	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12342699	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12343129	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12343141	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12343940	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12344334	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12344578	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12345524	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12345968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12346076	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12346087	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12346939	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12347895	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12348214	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12348239	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12349661	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12353541	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1890992	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2050865	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2050866	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594159	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28694002	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28714985	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35270441	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35358414	0.80[EUR][1000 genomes]
rs35533905	0.80[EUR][1000 genomes]
rs3983381	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41301525	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41305473	0.90[EUR][1000 genomes]
rs41313331	0.87[EUR][1000 genomes]
rs4596719	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55676913	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55696921	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55777057	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55805468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55931715	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55977108	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56155263	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56276438	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56390346	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61749208	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6478011	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6478016	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6478022	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6478023	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7018783	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7020623	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7021688	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7023661	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7024445	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7024612	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7024996	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7025170	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7025745	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7026568	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7026656	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7027024	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7027340	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7028327	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7029685	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7032311	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7037441	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7040031	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7041833	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7042290	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7042695	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7043140	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7043571	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7045347	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7046202	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7046427	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7047062	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7048208	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7048305	0.87[EUR][1000 genomes]
rs72760092	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72760093	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72760097	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761903	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72761904	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761966	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761972	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761982	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761985	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72761987	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761988	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761992	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72761994	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72762002	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72763803	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763804	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72763806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72763816	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763826	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763827	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763828	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763831	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763832	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72763842	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763843	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763846	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763848	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72763849	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7848203	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7849841	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7851718	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7853373	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7853792	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7854197	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7855325	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7856515	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7857943	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7859047	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7860673	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7861248	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7863159	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7864645	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7865364	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7867353	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7870227	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7870451	0.86[EUR][1000 genomes]
rs7871186	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7872084	0.89[EUR][1000 genomes]
rs7872192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7872283	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs867375	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs884899	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9299215	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs944345	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs944346	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9657641	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9657658	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9657659	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116269400-116303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:116287000-116311600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:116287400-116306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:116287400-116309200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:116287600-116302800	Strong transcription	Fetal Intestine Large	intestine
6	chr9:116288000-116308600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr9:116288800-116308200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:116288800-116308200	Strong transcription	HUVEC	blood vessel
9	chr9:116289000-116306600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:116289000-116308400	Strong transcription	GM12878-XiMat	blood
11	chr9:116289600-116310000	Weak transcription	Fetal Kidney	kidney
12	chr9:116291000-116310600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:116291600-116310400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:116292000-116302800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:116293600-116303600	Weak transcription	Hela-S3	cervix
16	chr9:116295400-116300600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:116295400-116303000	Weak transcription	A549	lung
18	chr9:116295800-116306000	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr9:116296200-116307000	Strong transcription	HepG2	liver
20	chr9:116296600-116304000	Weak transcription	Small Intestine	intestine
21	chr9:116297400-116300200	Enhancers	Fetal Muscle Leg	muscle
22	chr9:116297400-116306600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:116297600-116308400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:116297800-116300200	Genic enhancers	Fetal Stomach	stomach
25	chr9:116297800-116300200	Enhancers	Right Ventricle	heart
26	chr9:116297800-116300800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr9:116297800-116301000	Genic enhancers	Stomach Smooth Muscle	stomach
28	chr9:116297800-116301200	Enhancers	Right Atrium	heart
29	chr9:116297800-116301600	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:116297800-116306200	Enhancers	Fetal Heart	heart
31	chr9:116297800-116306600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr9:116298200-116300000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:116298200-116300200	Strong transcription	Gastric	stomach
34	chr9:116298200-116300600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:116298200-116301000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:116298200-116306400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:116298400-116300200	Enhancers	Brain Germinal Matrix	brain
38	chr9:116298400-116300200	Enhancers	Osteobl	bone
39	chr9:116298400-116300400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:116298400-116300600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:116298400-116300600	Strong transcription	Colonic Mucosa	Colon
42	chr9:116298400-116309400	Strong transcription	Primary T cells from cord blood	blood
43	chr9:116298600-116300200	Enhancers	Fetal Brain Male	brain
44	chr9:116298600-116300400	Enhancers	Fetal Brain Female	brain
45	chr9:116298600-116301600	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr9:116298600-116301600	Genic enhancers	Spleen	Spleen
47	chr9:116298600-116304400	Strong transcription	Liver	Liver
48	chr9:116298800-116300000	Genic enhancers	Lung	lung
49	chr9:116298800-116300200	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
50	chr9:116298800-116300400	Strong transcription	Pancreas	Pancrea

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