Variant report

Variant	rs72760096
Chromosome Location	chr9:116219433-116219434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr9:116219357-116219559	GM12878	blood:	n/a	n/a
2	SPI1	chr9:116219373-116219667	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116218884..116220525-chr9:116229994..116232111,2	MCF-7	breast:
2	chr9:116214726..116216613-chr9:116217512..116220196,2	MCF-7	breast:
3	chr9:116218127..116220284-chr9:116226403..116229532,3	MCF-7	breast:
4	chr9:116219400..116221211-chr9:116224639..116226706,2	MCF-7	breast:
5	chr9:116219110..116221378-chr9:116221760..116223459,2	MCF-7	breast:

No data

Variant related genes	Relation type
RGS3	TF binding region
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs10125960	0.96[AFR][1000 genomes]
rs10217237	0.96[AFR][1000 genomes]
rs10217750	0.96[AFR][1000 genomes]
rs10217756	0.96[AFR][1000 genomes]
rs10481640	0.96[AFR][1000 genomes]
rs10481676	0.96[AFR][1000 genomes]
rs10481677	0.86[AFR][1000 genomes]
rs10981793	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981794	0.93[AFR][1000 genomes]
rs10981803	0.93[AFR][1000 genomes]
rs10981807	0.89[AFR][1000 genomes]
rs10981808	0.89[AFR][1000 genomes]
rs10981814	0.89[AFR][1000 genomes]
rs10981815	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10981816	0.89[AFR][1000 genomes]
rs10981817	0.89[AFR][1000 genomes]
rs10981819	0.90[AFR][1000 genomes]
rs10981820	0.89[AFR][1000 genomes]
rs10981821	0.89[AFR][1000 genomes]
rs10981825	0.87[AFR][1000 genomes]
rs10981826	0.87[AFR][1000 genomes]
rs10981827	0.87[AFR][1000 genomes]
rs10981830	0.89[AFR][1000 genomes]
rs10981832	0.82[AFR][1000 genomes]
rs10981834	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10981835	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12335991	0.96[AFR][1000 genomes]
rs12336719	0.93[AFR][1000 genomes]
rs12337340	0.85[AFR][1000 genomes]
rs12338221	0.94[AFR][1000 genomes]
rs12338588	0.89[AFR][1000 genomes]
rs12338697	0.85[AFR][1000 genomes]
rs12338701	0.85[AFR][1000 genomes]
rs12338788	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339493	0.86[AFR][1000 genomes]
rs12339617	0.90[AFR][1000 genomes]
rs12339851	0.96[AFR][1000 genomes]
rs12340996	0.93[AFR][1000 genomes]
rs12341332	0.83[AFR][1000 genomes]
rs12342508	0.96[AFR][1000 genomes]
rs12342699	0.89[AFR][1000 genomes]
rs12343129	0.83[AFR][1000 genomes]
rs12343141	0.89[AFR][1000 genomes]
rs12344334	0.87[AFR][1000 genomes]
rs12344578	0.89[AFR][1000 genomes]
rs12344964	0.96[AFR][1000 genomes]
rs12345524	0.89[AFR][1000 genomes]
rs12346076	0.89[AFR][1000 genomes]
rs12346087	0.86[AFR][1000 genomes]
rs12346939	0.96[AFR][1000 genomes]
rs12347382	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12347895	0.86[AFR][1000 genomes]
rs12351728	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17525042	1.00[ASN][1000 genomes]
rs17553698	1.00[ASN][1000 genomes]
rs1890992	0.87[AFR][1000 genomes]
rs2050865	0.93[AFR][1000 genomes]
rs2050866	0.93[AFR][1000 genomes]
rs28694002	0.89[AFR][1000 genomes]
rs28709996	0.96[AFR][1000 genomes]
rs28714985	0.89[AFR][1000 genomes]
rs34106027	1.00[ASN][1000 genomes]
rs34142167	1.00[ASN][1000 genomes]
rs35120599	1.00[ASN][1000 genomes]
rs35270441	0.93[AFR][1000 genomes]
rs35329679	1.00[ASN][1000 genomes]
rs3761819	1.00[ASN][1000 genomes]
rs3810925	1.00[ASN][1000 genomes]
rs3810926	1.00[ASN][1000 genomes]
rs3827674	1.00[ASN][1000 genomes]
rs3983381	0.87[AFR][1000 genomes]
rs41276809	1.00[ASN][1000 genomes]
rs41301525	0.86[AFR][1000 genomes]
rs41305473	0.86[AFR][1000 genomes]
rs41312200	1.00[ASN][1000 genomes]
rs41316948	1.00[ASN][1000 genomes]
rs4596719	0.93[AFR][1000 genomes]
rs4979257	0.81[AFR][1000 genomes]
rs55676913	0.96[AFR][1000 genomes]
rs55714377	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55777057	0.87[AFR][1000 genomes]
rs55931715	0.87[AFR][1000 genomes]
rs55977108	0.89[AFR][1000 genomes]
rs56155263	0.86[AFR][1000 genomes]
rs56276438	0.87[AFR][1000 genomes]
rs56390346	0.87[AFR][1000 genomes]
rs6478011	0.96[AFR][1000 genomes]
rs6478016	0.96[AFR][1000 genomes]
rs6478017	0.96[AFR][1000 genomes]
rs6478022	0.87[AFR][1000 genomes]
rs6478023	0.87[AFR][1000 genomes]
rs7018783	0.89[AFR][1000 genomes]
rs7020623	0.96[AFR][1000 genomes]
rs7021491	0.96[AFR][1000 genomes]
rs7023661	0.96[AFR][1000 genomes]
rs7024445	0.87[AFR][1000 genomes]
rs7024612	0.87[AFR][1000 genomes]
rs7024996	0.86[AFR][1000 genomes]
rs7025170	0.87[AFR][1000 genomes]
rs7025745	0.89[AFR][1000 genomes]
rs7026568	0.93[AFR][1000 genomes]
rs7026656	0.93[AFR][1000 genomes]
rs7027024	0.93[AFR][1000 genomes]
rs7027340	0.96[AFR][1000 genomes]
rs7028327	0.96[AFR][1000 genomes]
rs7029685	0.89[AFR][1000 genomes]
rs7033679	0.96[AFR][1000 genomes]
rs7037441	0.89[AFR][1000 genomes]
rs7037761	0.96[AFR][1000 genomes]
rs7040031	0.96[AFR][1000 genomes]
rs7040635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7042290	0.96[AFR][1000 genomes]
rs7042695	0.89[AFR][1000 genomes]
rs7042968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043140	0.93[AFR][1000 genomes]
rs7045347	0.96[AFR][1000 genomes]
rs7046202	0.96[AFR][1000 genomes]
rs7046427	0.89[AFR][1000 genomes]
rs7047062	0.86[AFR][1000 genomes]
rs7049221	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72761903	0.92[AFR][1000 genomes]
rs72761905	0.96[AFR][1000 genomes]
rs72761906	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72761963	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72761964	0.96[AFR][1000 genomes]
rs72761965	0.96[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72761966	0.93[AFR][1000 genomes]
rs72761969	0.96[AFR][1000 genomes]
rs72761971	0.96[AFR][1000 genomes]
rs72761973	0.96[AFR][1000 genomes]
rs72761978	0.96[AFR][1000 genomes]
rs72761987	0.93[AFR][1000 genomes]
rs72761992	0.89[AFR][1000 genomes]
rs72761994	0.89[AFR][1000 genomes]
rs72761999	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72762002	0.89[AFR][1000 genomes]
rs72763803	0.87[AFR][1000 genomes]
rs72763804	0.89[AFR][1000 genomes]
rs72763826	0.86[AFR][1000 genomes]
rs72763828	0.85[AFR][1000 genomes]
rs72763831	0.86[AFR][1000 genomes]
rs72763841	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72763842	0.86[AFR][1000 genomes]
rs72763846	0.85[AFR][1000 genomes]
rs72763857	0.82[EUR][1000 genomes]
rs7848203	0.96[AFR][1000 genomes]
rs7849841	0.96[AFR][1000 genomes]
rs7851718	0.89[AFR][1000 genomes]
rs7851937	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7852118	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7853373	0.89[AFR][1000 genomes]
rs7853792	0.90[AFR][1000 genomes]
rs7854197	0.89[AFR][1000 genomes]
rs7854524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7855325	0.89[AFR][1000 genomes]
rs7855434	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7856689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857217	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7857943	0.86[AFR][1000 genomes]
rs7860673	0.96[AFR][1000 genomes]
rs7861248	0.96[AFR][1000 genomes]
rs7863159	0.86[AFR][1000 genomes]
rs7864467	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7864645	0.96[AFR][1000 genomes]
rs7864816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867203	0.85[AFR][1000 genomes]
rs7867353	0.90[AFR][1000 genomes]
rs7870142	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7870227	0.89[AFR][1000 genomes]
rs7870265	0.94[AFR][1000 genomes]
rs7870912	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7871186	0.86[AFR][1000 genomes]
rs7872283	0.96[AFR][1000 genomes]
rs883025	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs884898	0.84[AFR][1000 genomes]
rs884899	0.85[AFR][1000 genomes]
rs9299215	0.96[AFR][1000 genomes]
rs944345	0.87[AFR][1000 genomes]
rs944346	0.87[AFR][1000 genomes]
rs9657641	0.86[AFR][1000 genomes]
rs9657658	0.83[AFR][1000 genomes]
rs9657659	0.86[AFR][1000 genomes]
rs9785299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116211800-116219600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:116216000-116225400	Weak transcription	Gastric	stomach
3	chr9:116216200-116219800	Enhancers	Placenta	Placenta
4	chr9:116216200-116220000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:116216600-116220000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:116217000-116219600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:116217000-116219600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr9:116217400-116225200	Weak transcription	Right Ventricle	heart
9	chr9:116217600-116225200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:116218000-116219800	Enhancers	HepG2	liver
11	chr9:116218200-116219600	Enhancers	Ovary	ovary
12	chr9:116218200-116220000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:116218200-116225400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:116218600-116220000	Enhancers	Fetal Heart	heart
15	chr9:116218600-116229200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:116218800-116224200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:116218800-116224800	Weak transcription	Brain Hippocampus Middle	brain
18	chr9:116218800-116225200	Weak transcription	Fetal Intestine Small	intestine
19	chr9:116218800-116225200	Weak transcription	Small Intestine	intestine
20	chr9:116218800-116225400	Weak transcription	Pancreas	Pancrea
21	chr9:116218800-116225400	Weak transcription	Right Atrium	heart
22	chr9:116218800-116226000	Weak transcription	Fetal Kidney	kidney
23	chr9:116219000-116225400	Weak transcription	Fetal Intestine Large	intestine
24	chr9:116219400-116219600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:116219400-116219600	Enhancers	Aorta	Aorta
26	chr9:116219400-116240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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