Variant report

Variant	rs2470578
Chromosome Location	chr3:17330092-17330093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10212255	0.81[EUR][1000 genomes]
rs11713917	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11717644	0.80[EUR][1000 genomes]
rs12488093	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493567	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494513	0.82[EUR][1000 genomes]
rs13093375	0.83[EUR][1000 genomes]
rs13318609	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13320693	0.80[EUR][1000 genomes]
rs13322641	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13327810	0.80[EUR][1000 genomes]
rs13353435	0.83[EUR][1000 genomes]
rs1375817	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375818	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449879	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449881	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1449882	0.81[AMR][1000 genomes]
rs1449883	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449884	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1449886	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463218	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1463221	0.84[AMR][1000 genomes]
rs1470667	0.82[AMR][1000 genomes]
rs1545424	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597393	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1597394	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043422	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17043492	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043494	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17043539	0.82[EUR][1000 genomes]
rs17043541	0.82[EUR][1000 genomes]
rs187303	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060623	0.85[AMR][1000 genomes]
rs2060624	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060625	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060627	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060628	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2060629	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084572	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2122368	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2167118	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167119	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247106	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2252237	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348001	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2348003	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2470347	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470577	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470580	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2470581	0.90[ASN][1000 genomes]
rs2470583	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592099	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2596636	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596637	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2596638	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596639	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596640	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596645	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2596646	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2596647	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2596652	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2596655	0.90[ASN][1000 genomes]
rs2596657	0.83[AMR][1000 genomes]
rs2596658	0.90[ASN][1000 genomes]
rs2596663	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2596664	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596665	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596666	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2596667	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596669	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596670	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2596671	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596672	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2596673	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596674	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596675	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596677	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2596678	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596679	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596680	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596681	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733478	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733479	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733481	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2733485	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733487	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733489	0.82[AMR][1000 genomes]
rs2733491	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733493	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733494	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2733497	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733498	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733499	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2733500	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733501	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733502	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2733504	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733507	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733508	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2733509	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2733510	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733514	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733515	0.86[AMR][1000 genomes]
rs2733516	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2733517	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733518	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733519	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2733520	0.84[AMR][1000 genomes]
rs2733521	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2733523	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733524	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733526	0.83[AMR][1000 genomes]
rs2733527	0.83[AMR][1000 genomes]
rs2733528	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2733529	0.90[ASN][1000 genomes]
rs2733530	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs283906	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs283907	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs283908	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs283909	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283911	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs283912	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283913	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283914	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs283915	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283916	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283917	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs283918	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283919	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283921	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs283922	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283923	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283925	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283927	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs283928	0.93[AMR][1000 genomes]
rs283929	0.82[AMR][1000 genomes]
rs283930	0.82[AMR][1000 genomes]
rs283931	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs283934	0.80[AMR][1000 genomes]
rs283935	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs283936	0.80[AMR][1000 genomes]
rs283937	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs283938	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283940	0.85[AMR][1000 genomes]
rs283941	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs283943	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs283944	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs283945	0.85[AMR][1000 genomes]
rs283946	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs283947	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs283948	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs283949	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28408438	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454413	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34502358	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35126965	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234876	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582042	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4615062	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307801	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62245860	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62245914	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442679	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442680	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442681	0.80[EUR][1000 genomes]
rs6442683	0.80[EUR][1000 genomes]
rs6763681	0.82[ASN][1000 genomes]
rs6772394	0.81[EUR][1000 genomes]
rs6785870	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6787756	0.80[EUR][1000 genomes]
rs6799259	0.82[EUR][1000 genomes]
rs6802891	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs723813	0.90[ASN][1000 genomes]
rs728022	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617933	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623979	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7630286	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7630433	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7632989	0.80[EUR][1000 genomes]
rs7636787	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642719	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644389	0.81[EUR][1000 genomes]
rs7645756	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7648883	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs767685	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9810675	0.80[EUR][1000 genomes]
rs9861749	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883518	0.81[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	nsv876589	chr3:17230884-17346355	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv876590	chr3:17230884-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2755406	chr3:17237396-17589896	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17250000-17330200	Weak transcription	Aorta	Aorta
2	chr3:17255200-17363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:17273600-17330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:17279400-17330200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:17296600-17330200	Weak transcription	Left Ventricle	heart
6	chr3:17298800-17373000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:17301400-17335400	Weak transcription	Ovary	ovary
8	chr3:17311000-17330400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr3:17313800-17332200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:17315000-17332400	Weak transcription	GM12878-XiMat	blood
11	chr3:17315800-17330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:17316200-17330200	Weak transcription	Fetal Intestine Large	intestine
13	chr3:17319600-17330200	Weak transcription	Dnd41	blood
14	chr3:17319600-17332400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:17319600-17332400	Weak transcription	Adipose Nuclei	Adipose
16	chr3:17319800-17351200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:17320400-17330200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:17320400-17330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:17320600-17330200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:17320600-17330200	Weak transcription	Lung	lung
21	chr3:17320600-17330200	Weak transcription	Spleen	Spleen
22	chr3:17320600-17330400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:17320800-17330400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:17320800-17332200	Weak transcription	Colonic Mucosa	Colon
25	chr3:17321200-17332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:17321400-17330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:17321600-17332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:17321600-17354200	Weak transcription	Placenta	Placenta
29	chr3:17321800-17330200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:17321800-17332000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:17322000-17330400	Weak transcription	Esophagus	oesophagus
32	chr3:17322000-17330400	Weak transcription	Pancreas	Pancrea
33	chr3:17322200-17342800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:17322600-17330200	Weak transcription	Fetal Stomach	stomach
35	chr3:17322600-17330200	Weak transcription	Gastric	stomach
36	chr3:17323000-17334600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:17323200-17330200	Weak transcription	Fetal Intestine Small	intestine
38	chr3:17323800-17330400	Weak transcription	Liver	Liver
39	chr3:17324600-17333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:17325800-17330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:17327400-17333000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr3:17327800-17343000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr3:17328000-17332400	Weak transcription	Fetal Lung	lung
44	chr3:17328400-17341400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:17328600-17330200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:17328600-17330200	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:17328600-17331400	Strong transcription	Primary T cells from cord blood	blood
48	chr3:17328600-17332400	Weak transcription	HepG2	liver
49	chr3:17328800-17330400	Weak transcription	Small Intestine	intestine
50	chr3:17328800-17334000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links