Variant report

Variant	rs7717082
Chromosome Location	chr5:60769411-60769412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10041978	0.94[ASN][1000 genomes]
rs1045352	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10514910	0.87[CHB][hapmap]
rs10939900	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10939901	0.82[ASN][1000 genomes]
rs10939902	0.81[ASN][1000 genomes]
rs10939903	0.94[ASN][1000 genomes]
rs10939905	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11742658	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11743711	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747564	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11749200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11750589	0.81[ASN][1000 genomes]
rs11950318	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11952146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11954430	1.00[ASN][1000 genomes]
rs12187112	0.92[AMR][1000 genomes]
rs12188685	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12188710	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12189001	0.82[ASN][1000 genomes]
rs12518479	0.82[ASN][1000 genomes]
rs12519658	0.81[CHB][hapmap]
rs12520628	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs12522647	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156100	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13157657	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157831	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13158413	0.94[ASN][1000 genomes]
rs13158675	0.82[ASN][1000 genomes]
rs13159018	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13159166	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13160801	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162358	0.82[ASN][1000 genomes]
rs13162694	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13163970	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166934	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169711	0.82[ASN][1000 genomes]
rs13170262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171497	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13171757	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13172080	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13178686	0.82[ASN][1000 genomes]
rs13179091	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13179617	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13181015	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs13185068	0.98[ASN][1000 genomes]
rs13185783	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13186194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13188685	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1348716	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363892	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1374043	1.00[ASN][1000 genomes]
rs1445976	0.98[ASN][1000 genomes]
rs1445979	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1445980	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1445981	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1477355	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892286	0.81[CHB][hapmap]
rs16892307	0.81[CHB][hapmap]
rs16892374	0.81[CHB][hapmap]
rs17424296	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1986252	1.00[ASN][1000 genomes]
rs2034239	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053693	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053694	0.98[ASN][1000 genomes]
rs2276987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28610339	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34739794	0.80[ASN][1000 genomes]
rs35262187	0.82[ASN][1000 genomes]
rs4276369	0.94[JPT][hapmap]
rs4392578	0.82[ASN][1000 genomes]
rs4484384	0.82[ASN][1000 genomes]
rs4604142	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs55838118	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56035042	0.82[ASN][1000 genomes]
rs60529601	0.82[ASN][1000 genomes]
rs60886975	0.82[ASN][1000 genomes]
rs62368660	0.82[ASN][1000 genomes]
rs6449528	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6449529	0.82[ASN][1000 genomes]
rs6449530	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6449531	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449532	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449533	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449535	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66775554	0.98[ASN][1000 genomes]
rs6860608	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6865624	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6873712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6874264	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6874266	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6877610	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6878927	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6879809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6881765	0.81[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6881799	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6882136	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6885005	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6890351	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6894675	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6895046	1.00[ASN][1000 genomes]
rs6898746	0.97[ASN][1000 genomes]
rs7443602	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7700289	0.82[ASN][1000 genomes]
rs7701440	0.80[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs7709645	0.81[ASN][1000 genomes]
rs7714457	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714712	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7719647	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722810	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7724551	0.80[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs7727824	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7732234	0.95[ASN][1000 genomes]
rs7734879	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[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	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60747600-60770600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:60757600-60771000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:60758000-60772800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:60759400-60773000	Weak transcription	Right Ventricle	heart
5	chr5:60759800-60771400	Weak transcription	Fetal Heart	heart
6	chr5:60759800-60807400	Weak transcription	Fetal Stomach	stomach
7	chr5:60760400-60807800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:60760600-60824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:60760800-60773000	Weak transcription	Gastric	stomach
10	chr5:60760800-60821200	Weak transcription	Esophagus	oesophagus
11	chr5:60761000-60769800	Weak transcription	Pancreas	Pancrea
12	chr5:60761000-60773000	Weak transcription	Left Ventricle	heart
13	chr5:60761000-60781200	Weak transcription	Psoas Muscle	Psoas
14	chr5:60761000-60798000	Weak transcription	Aorta	Aorta
15	chr5:60761000-60820800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:60762400-60775000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:60763800-60773000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:60763800-60792000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:60763800-60792400	Weak transcription	HMEC	breast
20	chr5:60763800-60804400	Weak transcription	NHDF-Ad	bronchial
21	chr5:60764000-60772800	Weak transcription	Fetal Lung	lung
22	chr5:60764000-60773000	Weak transcription	NHEK	skin
23	chr5:60764000-60773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:60764000-60820600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:60764200-60773000	Weak transcription	NHLF	lung
26	chr5:60764200-60775200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:60764200-60781400	Weak transcription	HSMMtube	muscle
28	chr5:60764600-60771800	Weak transcription	Hela-S3	cervix
29	chr5:60764600-60772800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:60764600-60772800	Weak transcription	Ovary	ovary
31	chr5:60764600-60775200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:60764600-60775200	Weak transcription	Small Intestine	intestine
33	chr5:60764600-60780400	Weak transcription	Fetal Kidney	kidney
34	chr5:60764600-60792200	Weak transcription	NH-A	brain
35	chr5:60764800-60773000	Weak transcription	Osteobl	bone
36	chr5:60764800-60773200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:60764800-60773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:60764800-60775200	Weak transcription	Adipose Nuclei	Adipose
39	chr5:60764800-60790000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:60764800-60790000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:60764800-60790000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:60764800-60792400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:60764800-60821000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:60765000-60773200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:60765200-60770800	Weak transcription	Stomach Mucosa	stomach
46	chr5:60765200-60789600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:60765200-60798200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:60766000-60771200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:60766000-60792600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:60766600-60772000	Strong transcription	A549	lung

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