Variant report

Variant	rs7040635
Chromosome Location	chr9:116321657-116321658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116321505..116323280-chr9:116330950..116333354,2	K562	blood:
2	chr9:116308444..116310655-chr9:116320380..116322408,2	K562	blood:
3	chr9:116321376..116324696-chr9:116326302..116330504,5	MCF-7	breast:
4	chr9:116321637..116324327-chr9:116325655..116328382,2	K562	blood:
5	chr9:116320857..116323715-chr9:116338405..116341274,2	MCF-7	breast:
6	chr9:116320269..116322424-chr9:116341614..116344375,2	MCF-7	breast:
7	chr9:116316766..116318974-chr9:116321066..116324135,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 182 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10125960	0.89[AFR][1000 genomes]
rs10217237	0.89[AFR][1000 genomes]
rs10217750	0.89[AFR][1000 genomes]
rs10217756	0.89[AFR][1000 genomes]
rs10481640	0.89[AFR][1000 genomes]
rs10481676	0.89[AFR][1000 genomes]
rs10481677	0.93[AFR][1000 genomes]
rs10981793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981794	0.86[AFR][1000 genomes]
rs10981803	0.92[AFR][1000 genomes]
rs10981807	0.96[AFR][1000 genomes]
rs10981808	0.96[AFR][1000 genomes]
rs10981814	0.96[AFR][1000 genomes]
rs10981815	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981816	0.96[AFR][1000 genomes]
rs10981817	0.96[AFR][1000 genomes]
rs10981819	0.94[AFR][1000 genomes]
rs10981820	0.96[AFR][1000 genomes]
rs10981821	0.96[AFR][1000 genomes]
rs10981825	0.97[AFR][1000 genomes]
rs10981826	0.97[AFR][1000 genomes]
rs10981827	0.97[AFR][1000 genomes]
rs10981830	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10981832	0.89[AFR][1000 genomes]
rs10981834	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10981835	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12335991	0.89[AFR][1000 genomes]
rs12336719	0.92[AFR][1000 genomes]
rs12337340	0.94[AFR][1000 genomes]
rs12338221	0.87[AFR][1000 genomes]
rs12338588	0.87[AFR][1000 genomes]
rs12338697	0.94[AFR][1000 genomes]
rs12338701	0.94[AFR][1000 genomes]
rs12338788	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12339493	0.93[AFR][1000 genomes]
rs12339617	0.94[AFR][1000 genomes]
rs12339851	0.89[AFR][1000 genomes]
rs12340996	0.86[AFR][1000 genomes]
rs12341332	0.90[AFR][1000 genomes]
rs12342508	0.89[AFR][1000 genomes]
rs12342699	0.87[AFR][1000 genomes]
rs12343129	0.90[AFR][1000 genomes]
rs12343141	0.96[AFR][1000 genomes]
rs12344334	0.97[AFR][1000 genomes]
rs12344578	0.96[AFR][1000 genomes]
rs12344964	0.89[AFR][1000 genomes]
rs12345524	0.96[AFR][1000 genomes]
rs12346076	0.96[AFR][1000 genomes]
rs12346087	0.93[AFR][1000 genomes]
rs12346939	0.89[AFR][1000 genomes]
rs12347382	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12347895	0.93[AFR][1000 genomes]
rs12351728	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1890992	0.97[AFR][1000 genomes]
rs2050865	0.92[AFR][1000 genomes]
rs2050866	0.92[AFR][1000 genomes]
rs28694002	0.96[AFR][1000 genomes]
rs28709996	0.89[AFR][1000 genomes]
rs28714985	0.96[AFR][1000 genomes]
rs35270441	0.92[AFR][1000 genomes]
rs3747813	1.00[ASN][1000 genomes]
rs3983381	0.97[AFR][1000 genomes]
rs41301525	0.93[AFR][1000 genomes]
rs41305473	0.93[AFR][1000 genomes]
rs41306506	1.00[ASN][1000 genomes]
rs4596719	0.92[AFR][1000 genomes]
rs4979257	0.88[AFR][1000 genomes]
rs55676913	0.89[AFR][1000 genomes]
rs55714377	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs55777057	0.97[AFR][1000 genomes]
rs55931715	0.97[AFR][1000 genomes]
rs55977108	0.96[AFR][1000 genomes]
rs56155263	0.93[AFR][1000 genomes]
rs56276438	0.97[AFR][1000 genomes]
rs56390346	0.97[AFR][1000 genomes]
rs6478011	0.89[AFR][1000 genomes]
rs6478016	0.89[AFR][1000 genomes]
rs6478017	0.89[AFR][1000 genomes]
rs6478022	0.97[AFR][1000 genomes]
rs6478023	0.97[AFR][1000 genomes]
rs7018783	0.96[AFR][1000 genomes]
rs7020623	0.89[AFR][1000 genomes]
rs7021491	0.89[AFR][1000 genomes]
rs7023661	0.89[AFR][1000 genomes]
rs7024445	0.97[AFR][1000 genomes]
rs7024612	0.97[AFR][1000 genomes]
rs7024996	0.96[AFR][1000 genomes]
rs7025170	0.97[AFR][1000 genomes]
rs7025745	0.96[AFR][1000 genomes]
rs7026568	0.92[AFR][1000 genomes]
rs7026656	0.92[AFR][1000 genomes]
rs7027024	0.92[AFR][1000 genomes]
rs7027340	0.89[AFR][1000 genomes]
rs7028327	0.89[AFR][1000 genomes]
rs7029685	0.96[AFR][1000 genomes]
rs7033679	0.89[AFR][1000 genomes]
rs7037441	0.96[AFR][1000 genomes]
rs7037761	0.89[AFR][1000 genomes]
rs7040031	0.89[AFR][1000 genomes]
rs7041833	0.81[AFR][1000 genomes]
rs7042290	0.89[AFR][1000 genomes]
rs7042695	0.96[AFR][1000 genomes]
rs7042968	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7043140	0.92[AFR][1000 genomes]
rs7045347	0.89[AFR][1000 genomes]
rs7046202	0.89[AFR][1000 genomes]
rs7046427	0.96[AFR][1000 genomes]
rs7047062	0.93[AFR][1000 genomes]
rs7048208	0.82[AFR][1000 genomes]
rs7049221	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72761903	0.87[AFR][1000 genomes]
rs72761905	0.89[AFR][1000 genomes]
rs72761906	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72761963	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72761964	0.89[AFR][1000 genomes]
rs72761965	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72761966	0.86[AFR][1000 genomes]
rs72761969	0.89[AFR][1000 genomes]
rs72761971	0.89[AFR][1000 genomes]
rs72761973	0.89[AFR][1000 genomes]
rs72761978	0.89[AFR][1000 genomes]
rs72761987	0.92[AFR][1000 genomes]
rs72761992	0.96[AFR][1000 genomes]
rs72761994	0.96[AFR][1000 genomes]
rs72761999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762002	0.96[AFR][1000 genomes]
rs72763803	0.92[AFR][1000 genomes]
rs72763804	0.96[AFR][1000 genomes]
rs72763816	0.80[AFR][1000 genomes]
rs72763826	0.93[AFR][1000 genomes]
rs72763828	0.89[AFR][1000 genomes]
rs72763831	0.93[AFR][1000 genomes]
rs72763841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763842	0.93[AFR][1000 genomes]
rs72763843	0.85[AFR][1000 genomes]
rs72763846	0.92[AFR][1000 genomes]
rs72763856	0.83[EUR][1000 genomes]
rs72763857	0.86[EUR][1000 genomes]
rs7848203	0.89[AFR][1000 genomes]
rs7849841	0.89[AFR][1000 genomes]
rs7851718	0.96[AFR][1000 genomes]
rs7851937	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7852118	0.99[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7853373	0.96[AFR][1000 genomes]
rs7853792	0.94[AFR][1000 genomes]
rs7854197	0.96[AFR][1000 genomes]
rs7854524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855325	0.96[AFR][1000 genomes]
rs7855434	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7856689	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7857217	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7857943	0.93[AFR][1000 genomes]
rs7860673	0.89[AFR][1000 genomes]
rs7861248	0.89[AFR][1000 genomes]
rs7863159	0.93[AFR][1000 genomes]
rs7864467	0.89[AFR][1000 genomes]
rs7864645	0.89[AFR][1000 genomes]
rs7864816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7867353	0.94[AFR][1000 genomes]
rs7870142	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7870227	0.96[AFR][1000 genomes]
rs7870265	0.87[AFR][1000 genomes]
rs7871186	0.93[AFR][1000 genomes]
rs7872084	0.85[AFR][1000 genomes]
rs7872283	0.89[AFR][1000 genomes]
rs883025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs884898	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs884899	0.94[AFR][1000 genomes]
rs9299215	0.89[AFR][1000 genomes]
rs944345	0.97[AFR][1000 genomes]
rs944346	0.97[AFR][1000 genomes]
rs9657641	0.93[AFR][1000 genomes]
rs9657658	0.87[AFR][1000 genomes]
rs9657659	0.93[AFR][1000 genomes]
rs9785299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116304400-116323600	Weak transcription	Hela-S3	cervix
2	chr9:116311200-116323000	Weak transcription	Primary T cells from cord blood	blood
3	chr9:116311200-116326600	Weak transcription	Fetal Thymus	thymus
4	chr9:116311400-116321800	Weak transcription	GM12878-XiMat	blood
5	chr9:116311400-116322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:116311400-116322400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:116311400-116326200	Weak transcription	Fetal Intestine Large	intestine
8	chr9:116311600-116322200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr9:116311600-116322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:116311600-116326800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:116311600-116331600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr9:116311800-116322400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:116318000-116322800	Enhancers	NHLF	lung
14	chr9:116318200-116323200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:116318800-116321800	Enhancers	Lung	lung
16	chr9:116318800-116322200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr9:116318800-116322800	Enhancers	Left Ventricle	heart
18	chr9:116318800-116322800	Enhancers	Right Atrium	heart
19	chr9:116318800-116323000	Enhancers	Fetal Heart	heart
20	chr9:116318800-116323200	Enhancers	Ovary	ovary
21	chr9:116319000-116322800	Enhancers	Right Ventricle	heart
22	chr9:116319000-116326600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:116319200-116323200	Enhancers	Pancreas	Pancrea
24	chr9:116319600-116322400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr9:116319600-116322600	Enhancers	Placenta	Placenta
26	chr9:116319800-116322800	Enhancers	Spleen	Spleen
27	chr9:116320000-116322800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr9:116320400-116324000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:116320600-116322200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:116320600-116322200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:116320800-116322000	Enhancers	Fetal Stomach	stomach
32	chr9:116320800-116322200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:116320800-116322200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:116320800-116322200	Enhancers	Liver	Liver
35	chr9:116320800-116322200	Enhancers	HUVEC	blood vessel
36	chr9:116320800-116322200	Enhancers	NHDF-Ad	bronchial
37	chr9:116320800-116322200	Enhancers	Osteobl	bone
38	chr9:116320800-116322800	Enhancers	Adipose Nuclei	Adipose
39	chr9:116321000-116321800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:116321000-116321800	Enhancers	Aorta	Aorta
41	chr9:116321000-116321800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr9:116321000-116321800	Enhancers	A549	lung
43	chr9:116321000-116322000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:116321000-116322000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:116321000-116322000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:116321000-116322000	Enhancers	Brain Hippocampus Middle	brain
47	chr9:116321000-116322000	Enhancers	Colonic Mucosa	Colon
48	chr9:116321000-116322000	Enhancers	Colon Smooth Muscle	Colon
49	chr9:116321000-116322000	Enhancers	Fetal Lung	lung
50	chr9:116321000-116322000	Enhancers	Psoas Muscle	Psoas

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