Variant report

Variant	rs68171482
Chromosome Location	chr9:72908374-72908375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10116549	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10117899	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10125454	0.83[EUR][1000 genomes]
rs10126027	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10780870	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780871	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780924	0.95[EUR][1000 genomes]
rs10868742	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868807	0.86[AFR][1000 genomes]
rs1112937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11141917	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142348	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11142354	0.86[AFR][1000 genomes]
rs11142356	0.86[AFR][1000 genomes]
rs11142363	0.84[AFR][1000 genomes]
rs11142365	0.95[EUR][1000 genomes]
rs11142367	0.90[AFR][1000 genomes]
rs11142368	0.84[AFR][1000 genomes]
rs11142370	0.84[AFR][1000 genomes]
rs11142371	0.90[AFR][1000 genomes]
rs11142373	0.82[AFR][1000 genomes]
rs11142374	0.88[AFR][1000 genomes]
rs11142375	0.88[ASN][1000 genomes]
rs11142379	0.95[EUR][1000 genomes]
rs11142380	0.95[EUR][1000 genomes]
rs11142381	0.95[EUR][1000 genomes]
rs1180079	0.80[AFR][1000 genomes]
rs1180081	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180087	0.86[AFR][1000 genomes]
rs1180088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180098	0.86[AFR][1000 genomes]
rs1180099	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180101	0.80[AFR][1000 genomes]
rs1180103	0.80[AFR][1000 genomes]
rs1180104	0.84[AFR][1000 genomes]
rs1180106	0.86[AFR][1000 genomes]
rs1180107	0.80[AFR][1000 genomes]
rs1180110	0.97[EUR][1000 genomes]
rs1180111	0.97[EUR][1000 genomes]
rs1180112	0.90[AFR][1000 genomes]
rs1180114	0.88[AFR][1000 genomes]
rs1180115	0.81[AFR][1000 genomes]
rs1180117	0.88[AFR][1000 genomes]
rs1180118	0.92[AFR][1000 genomes]
rs1180120	0.88[AFR][1000 genomes]
rs1180122	0.86[AFR][1000 genomes]
rs1180124	0.88[AFR][1000 genomes]
rs1180125	0.86[AFR][1000 genomes]
rs1180126	0.94[AFR][1000 genomes]
rs1180127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180128	0.94[AFR][1000 genomes]
rs1180132	0.88[AFR][1000 genomes]
rs1180133	0.88[AFR][1000 genomes]
rs11998951	0.90[AFR][1000 genomes]
rs12005666	0.80[AFR][1000 genomes]
rs12006212	0.81[AFR][1000 genomes]
rs12115787	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12156606	0.86[AFR][1000 genomes]
rs12349698	0.90[AMR][1000 genomes]
rs12377677	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12377766	0.80[AFR][1000 genomes]
rs12380844	0.90[AFR][1000 genomes]
rs17051515	0.80[ASN][1000 genomes]
rs17454349	0.80[ASN][1000 genomes]
rs17454433	0.80[ASN][1000 genomes]
rs17526808	0.80[ASN][1000 genomes]
rs1887451	0.83[EUR][1000 genomes]
rs1927096	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927100	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927101	0.80[ASN][1000 genomes]
rs1927118	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1927124	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927130	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927132	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927133	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927134	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927135	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927136	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927144	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1986067	0.89[ASN][1000 genomes]
rs2026137	0.90[AFR][1000 genomes]
rs2148857	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148859	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148863	0.83[EUR][1000 genomes]
rs2148866	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148867	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182734	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182735	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182737	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182738	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182741	1.00[ASN][1000 genomes]
rs2183362	0.84[AFR][1000 genomes]
rs2309634	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309644	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479033	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2768643	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2768644	0.80[AFR][1000 genomes]
rs2768645	0.85[AFR][1000 genomes]
rs2768646	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2773362	0.80[AFR][1000 genomes]
rs2773363	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2773366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871293	0.80[AFR][1000 genomes]
rs4384045	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4449855	0.84[AFR][1000 genomes]
rs4744591	0.84[AFR][1000 genomes]
rs4744989	0.92[AMR][1000 genomes]
rs4744993	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744999	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019539	0.80[ASN][1000 genomes]
rs56059804	0.86[AFR][1000 genomes]
rs58720670	0.90[AFR][1000 genomes]
rs58881692	0.81[AFR][1000 genomes]
rs61531415	0.87[AFR][1000 genomes]
rs6560015	0.80[ASN][1000 genomes]
rs6560016	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6560018	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6560129	0.80[AFR][1000 genomes]
rs66524845	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs66658020	0.84[AFR][1000 genomes]
rs66756859	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7019147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024117	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024812	0.80[ASN][1000 genomes]
rs7047789	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73454795	0.90[AFR][1000 genomes]
rs7852005	0.90[AFR][1000 genomes]
rs7853298	0.83[EUR][1000 genomes]
rs7858389	0.84[AFR][1000 genomes]
rs7858907	0.80[AFR][1000 genomes]
rs7858988	0.84[AFR][1000 genomes]
rs7860729	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7867727	0.86[AFR][1000 genomes]
rs7868564	0.84[AFR][1000 genomes]
rs7869429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871674	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs943534	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943536	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72876400-72916800	Weak transcription	Colonic Mucosa	Colon
3	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
4	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
6	chr9:72877000-72939800	Weak transcription	Gastric	stomach
7	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:72877600-72909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:72877600-72935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:72878600-72937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr9:72880000-72939400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:72885400-72916800	Weak transcription	Esophagus	oesophagus
13	chr9:72887600-72916800	Weak transcription	Aorta	Aorta
14	chr9:72891000-72908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr9:72891000-72911000	Strong transcription	HSMM	muscle
16	chr9:72891000-72923400	Strong transcription	Dnd41	blood
17	chr9:72891400-72948200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr9:72894600-72917000	Weak transcription	Pancreas	Pancrea
19	chr9:72896200-72916800	Weak transcription	Right Ventricle	heart
20	chr9:72897800-72912800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr9:72898200-72922200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:72898600-72912800	Weak transcription	Fetal Brain Male	brain
23	chr9:72899000-72914600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:72899200-72914200	Weak transcription	NHEK	skin
25	chr9:72899600-72913000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr9:72900600-72916800	Weak transcription	Lung	lung
27	chr9:72900600-72916800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:72900600-72924000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:72900600-72939400	Weak transcription	Small Intestine	intestine
30	chr9:72900600-72942600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:72900800-72916800	Weak transcription	Brain Substantia Nigra	brain
32	chr9:72901000-72912800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr9:72901200-72910000	Weak transcription	Fetal Stomach	stomach
34	chr9:72902200-72915000	Weak transcription	Left Ventricle	heart
35	chr9:72902600-72910800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr9:72903000-72930400	Weak transcription	Brain Angular Gyrus	brain
37	chr9:72904200-72912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:72904800-72909600	Strong transcription	Placenta	Placenta
39	chr9:72904800-72911200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:72905000-72910000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:72905400-72908800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:72905600-72908400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:72905600-72910600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr9:72905600-72911000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:72905800-72908400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:72906000-72909400	Weak transcription	Brain Germinal Matrix	brain
47	chr9:72906200-72908800	Weak transcription	K562	blood
48	chr9:72906200-72911800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:72906600-72912200	Weak transcription	Osteobl	bone
50	chr9:72906800-72909200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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