Variant report

Variant	rs943539
Chromosome Location	chr9:72791765-72791766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10116027	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10116549	0.83[AFR][1000 genomes]
rs10125117	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10126027	0.83[AFR][1000 genomes]
rs1012992	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1012993	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10435957	0.84[ASN][1000 genomes]
rs10732697	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10746819	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10780851	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10780866	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10780869	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10780870	0.86[AFR][1000 genomes]
rs10780871	0.87[AFR][1000 genomes]
rs10780898	0.86[ASN][1000 genomes]
rs10868741	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10868807	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10868808	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1112937	0.94[YRI][hapmap]
rs11141917	0.80[AFR][1000 genomes]
rs11142242	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11142348	0.87[YRI][hapmap]
rs11142354	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11142356	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11142363	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11142367	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11142368	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11142370	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11142371	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11142373	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11142374	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1180078	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1180079	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1180082	0.83[LWK][hapmap];0.91[YRI][hapmap]
rs1180086	0.92[YRI][hapmap]
rs1180087	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1180091	0.96[YRI][hapmap]
rs1180094	0.92[YRI][hapmap]
rs1180098	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180099	0.87[YRI][hapmap]
rs1180101	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180102	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180103	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180104	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180105	0.94[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180106	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180107	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1180112	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180114	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180115	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180117	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180118	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180120	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180122	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180124	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180125	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1180126	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1180127	0.92[YRI][hapmap]
rs1180128	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1180132	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1180133	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998951	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12005666	0.84[ASN][1000 genomes]
rs12006212	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12156606	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12236327	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12377677	0.85[AFR][1000 genomes]
rs12377766	0.80[ASN][1000 genomes]
rs12379485	0.80[ASN][1000 genomes]
rs12380844	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1887452	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927091	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927092	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927093	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927098	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927118	0.83[AFR][1000 genomes]
rs1927120	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927121	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927122	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927124	0.84[AFR][1000 genomes]
rs1927125	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1927126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1927127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1927130	0.87[AFR][1000 genomes]
rs1927132	0.87[AFR][1000 genomes]
rs1927133	0.87[AFR][1000 genomes]
rs1927134	0.87[AFR][1000 genomes]
rs1927135	0.87[AFR][1000 genomes]
rs1927136	0.87[AFR][1000 genomes]
rs1927143	0.88[AFR][1000 genomes]
rs1927148	0.82[JPT][hapmap];0.81[TSI][hapmap]
rs2026137	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2148866	0.83[AFR][1000 genomes]
rs2148867	0.84[AFR][1000 genomes]
rs2148868	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182731	0.94[ASN][1000 genomes]
rs2182735	0.82[LWK][hapmap];0.80[MKK][hapmap];0.91[YRI][hapmap]
rs2182740	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182741	0.84[AFR][1000 genomes]
rs2183362	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2309632	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2309634	0.87[AFR][1000 genomes]
rs2309636	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2309644	0.92[YRI][hapmap]
rs2768644	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2768645	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2768649	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2773362	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2871291	0.88[ASN][1000 genomes]
rs2871293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2871296	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4322072	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378025	0.90[ASN][1000 genomes]
rs4449855	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4531114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744591	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744984	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744986	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744994	1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744995	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4744997	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4744998	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56059804	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56345723	0.95[ASN][1000 genomes]
rs58720670	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58881692	0.86[ASN][1000 genomes]
rs61531415	0.81[EUR][1000 genomes]
rs6560016	0.84[AFR][1000 genomes]
rs6560018	0.87[AFR][1000 genomes]
rs6560060	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6560129	0.80[ASN][1000 genomes]
rs66658020	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7024117	0.84[AFR][1000 genomes]
rs7034322	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7041843	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7047789	0.83[LWK][hapmap];0.92[YRI][hapmap]
rs73454795	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7852005	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7854735	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7856528	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7857214	0.92[ASN][1000 genomes]
rs7857292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7858389	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7858907	0.80[ASN][1000 genomes]
rs7858988	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7860729	0.84[AFR][1000 genomes]
rs7867727	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7868564	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7875514	0.91[ASN][1000 genomes]
rs8181178	0.87[ASN][1000 genomes]
rs8181179	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs943536	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs943540	0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs9696790	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
2	chr9:72759800-72792200	Weak transcription	HMEC	breast
3	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus
4	chr9:72776800-72791800	Weak transcription	Fetal Lung	lung
5	chr9:72777000-72792400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
7	chr9:72779200-72792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:72780400-72796000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:72780400-72800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:72780600-72801400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:72783000-72792000	Strong transcription	HSMMtube	muscle
13	chr9:72783600-72792400	Weak transcription	Pancreas	Pancrea
14	chr9:72783600-72793600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:72783600-72794000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr9:72783800-72801600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:72784400-72793000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:72784600-72802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:72785600-72794200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:72786000-72792200	Weak transcription	NH-A	brain
21	chr9:72786000-72792400	Weak transcription	Ovary	ovary
22	chr9:72786200-72792400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:72786400-72795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:72786400-72800400	Weak transcription	Aorta	Aorta
25	chr9:72786600-72792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:72788200-72794200	Weak transcription	Lung	lung
27	chr9:72788200-72800200	Weak transcription	Left Ventricle	heart
28	chr9:72789400-72793200	Weak transcription	Gastric	stomach
29	chr9:72789800-72792400	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:72790000-72792400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:72790400-72792600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:72790400-72793200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:72791200-72791800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:72791200-72794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:72791400-72792400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:72791400-72793000	Weak transcription	Adipose Nuclei	Adipose
37	chr9:72791600-72792000	Weak transcription	HSMM	muscle
38	chr9:72791600-72793000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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