Variant report

Variant	rs7853298
Chromosome Location	chr9:72761012-72761013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10116027	0.87[AFR][1000 genomes]
rs10116549	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10117899	0.87[EUR][1000 genomes]
rs10125454	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10126027	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1012992	0.81[AFR][1000 genomes]
rs1012993	0.81[AFR][1000 genomes]
rs10521437	0.85[ASN][1000 genomes]
rs10746819	0.81[AFR][1000 genomes]
rs10780851	0.86[AFR][1000 genomes]
rs10780866	0.85[AFR][1000 genomes]
rs10780870	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10780871	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10868742	0.87[EUR][1000 genomes]
rs1112937	0.80[EUR][1000 genomes]
rs11141917	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1180081	0.83[EUR][1000 genomes]
rs1180083	0.82[EUR][1000 genomes]
rs1180086	0.82[EUR][1000 genomes]
rs1180088	0.82[EUR][1000 genomes]
rs1180091	0.83[EUR][1000 genomes]
rs1180094	0.83[EUR][1000 genomes]
rs1180099	0.83[EUR][1000 genomes]
rs1180110	0.80[EUR][1000 genomes]
rs1180111	0.80[EUR][1000 genomes]
rs1180127	0.83[EUR][1000 genomes]
rs12377677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051515	0.90[ASN][1000 genomes]
rs17453310	1.00[ASN][1000 genomes]
rs17454349	0.90[ASN][1000 genomes]
rs17454433	0.90[ASN][1000 genomes]
rs17526808	0.90[ASN][1000 genomes]
rs1887451	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927096	0.84[EUR][1000 genomes]
rs1927100	0.87[EUR][1000 genomes]
rs1927101	0.90[ASN][1000 genomes]
rs1927113	1.00[ASN][1000 genomes]
rs1927118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1927120	0.81[AFR][1000 genomes]
rs1927121	0.84[AFR][1000 genomes]
rs1927122	0.87[AFR][1000 genomes]
rs1927124	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927126	0.83[AFR][1000 genomes]
rs1927127	0.83[AFR][1000 genomes]
rs1927130	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1927132	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1927133	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1927134	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1927135	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1927136	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1927144	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1986067	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2148857	0.84[EUR][1000 genomes]
rs2148859	0.82[EUR][1000 genomes]
rs2148863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2148867	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2148868	0.80[AFR][1000 genomes]
rs2182734	0.84[EUR][1000 genomes]
rs2182735	0.84[EUR][1000 genomes]
rs2182737	0.84[EUR][1000 genomes]
rs2182738	0.82[EUR][1000 genomes]
rs2182740	0.81[AFR][1000 genomes]
rs2182741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2309634	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2309644	0.84[EUR][1000 genomes]
rs2479033	0.84[EUR][1000 genomes]
rs2768643	0.83[EUR][1000 genomes]
rs2768646	0.84[EUR][1000 genomes]
rs2773363	0.84[EUR][1000 genomes]
rs2773366	0.84[EUR][1000 genomes]
rs4531114	0.83[AFR][1000 genomes]
rs4744984	0.86[AFR][1000 genomes]
rs4744993	0.87[EUR][1000 genomes]
rs4744999	0.83[EUR][1000 genomes]
rs5019539	0.90[ASN][1000 genomes]
rs6560015	0.90[ASN][1000 genomes]
rs6560016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6560018	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68171482	0.83[EUR][1000 genomes]
rs7019147	0.87[EUR][1000 genomes]
rs7020447	0.83[EUR][1000 genomes]
rs7024117	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7024812	0.90[ASN][1000 genomes]
rs7043789	0.81[ASN][1000 genomes]
rs7047789	0.80[EUR][1000 genomes]
rs73647464	0.81[ASN][1000 genomes]
rs7846908	0.81[ASN][1000 genomes]
rs7856528	0.85[AFR][1000 genomes]
rs7860729	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7869429	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	66 gene(s)	inside rSNPs	diseases
3	nsv614582	chr9:72758742-72763436	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3483551	chr9:72760232-72765130	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
8	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
9	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
10	chr9:72746600-72762600	Weak transcription	Psoas Muscle	Psoas
11	chr9:72748600-72762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:72749800-72762600	Weak transcription	Fetal Stomach	stomach
13	chr9:72749800-72763000	Weak transcription	Lung	lung
14	chr9:72750400-72762600	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:72750400-72771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:72751000-72771800	Weak transcription	Aorta	Aorta
17	chr9:72752000-72779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:72752400-72775200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:72752600-72771400	Weak transcription	NH-A	brain
20	chr9:72753800-72770000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:72754800-72764200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr9:72755000-72761600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:72755400-72765800	Weak transcription	Left Ventricle	heart
24	chr9:72755800-72761800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:72757800-72761600	Strong transcription	HSMMtube	muscle
26	chr9:72758400-72761200	Strong transcription	HSMM	muscle
27	chr9:72758800-72761600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:72758800-72772200	Weak transcription	Colonic Mucosa	Colon
29	chr9:72759000-72763800	Strong transcription	Colon Smooth Muscle	Colon
30	chr9:72759200-72761600	Strong transcription	Rectal Smooth Muscle	rectum
31	chr9:72759200-72774400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
33	chr9:72759800-72774000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:72759800-72792200	Weak transcription	HMEC	breast
35	chr9:72760000-72768600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:72760400-72765400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:72761000-72761400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:72761000-72761600	Strong transcription	Ovary	ovary
40	chr9:72761000-72767400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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