Variant report

Variant	rs2470581
Chromosome Location	chr3:17244668-17244669
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17241712..17244929-chr3:17245188..17248642,3	K562	blood:

Extended variants
information (count: 223 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:218)

rs_ID	r²[population]
rs10212255	0.82[EUR][1000 genomes]
rs11708391	0.80[AMR][1000 genomes]
rs11713917	0.86[EUR][1000 genomes]
rs11717644	0.81[EUR][1000 genomes]
rs12488093	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12493567	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12494513	0.83[EUR][1000 genomes]
rs13093375	0.84[EUR][1000 genomes]
rs13318609	0.86[EUR][1000 genomes]
rs13320693	0.81[EUR][1000 genomes]
rs13322641	0.86[EUR][1000 genomes]
rs13327810	0.81[EUR][1000 genomes]
rs13353435	0.84[EUR][1000 genomes]
rs1374197	0.80[AMR][1000 genomes]
rs1375817	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1375818	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449879	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449881	0.93[EUR][1000 genomes]
rs1449882	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1449883	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449884	0.94[EUR][1000 genomes]
rs1449885	0.86[EUR][1000 genomes]
rs1449886	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449887	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1449888	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1463218	0.93[EUR][1000 genomes]
rs1463221	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1463222	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1470667	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1545424	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1597393	0.94[EUR][1000 genomes]
rs1597394	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17043422	0.86[EUR][1000 genomes]
rs17043492	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17043494	0.84[EUR][1000 genomes]
rs17043539	0.83[EUR][1000 genomes]
rs17043541	0.83[EUR][1000 genomes]
rs1867772	0.80[AMR][1000 genomes]
rs187303	0.88[EUR][1000 genomes]
rs2060623	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2060624	0.91[EUR][1000 genomes]
rs2060625	0.91[EUR][1000 genomes]
rs2060626	0.81[EUR][1000 genomes]
rs2060627	0.91[EUR][1000 genomes]
rs2060628	0.92[EUR][1000 genomes]
rs2060629	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2084572	0.92[EUR][1000 genomes]
rs2122368	0.94[EUR][1000 genomes]
rs2167118	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2167119	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2247106	0.93[EUR][1000 genomes]
rs2252237	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2348001	0.97[EUR][1000 genomes]
rs2348003	0.93[EUR][1000 genomes]
rs2348004	0.85[EUR][1000 genomes]
rs2348005	0.85[EUR][1000 genomes]
rs2470347	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470577	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2470578	0.90[ASN][1000 genomes]
rs2470580	0.86[EUR][1000 genomes]
rs2470583	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2592099	0.86[EUR][1000 genomes]
rs2596636	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596637	0.93[EUR][1000 genomes]
rs2596638	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596639	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596640	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596641	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2596643	0.83[EUR][1000 genomes]
rs2596645	0.93[EUR][1000 genomes]
rs2596646	0.93[EUR][1000 genomes]
rs2596647	0.93[EUR][1000 genomes]
rs2596648	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2596649	0.85[EUR][1000 genomes]
rs2596650	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2596652	0.86[EUR][1000 genomes]
rs2596655	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596656	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2596657	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2596658	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2596662	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2596663	0.94[EUR][1000 genomes]
rs2596664	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596665	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596666	0.94[EUR][1000 genomes]
rs2596667	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596669	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596670	0.93[EUR][1000 genomes]
rs2596671	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596672	0.94[EUR][1000 genomes]
rs2596673	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596674	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596675	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596676	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2596677	0.91[EUR][1000 genomes]
rs2596678	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596679	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596680	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596681	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2596682	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2733478	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733479	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733480	0.83[AMR][1000 genomes]
rs2733481	0.91[EUR][1000 genomes]
rs2733485	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733487	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733489	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2733491	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733492	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2733493	0.93[EUR][1000 genomes]
rs2733494	0.93[EUR][1000 genomes]
rs2733495	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2733496	0.84[EUR][1000 genomes]
rs2733497	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733498	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733499	0.92[EUR][1000 genomes]
rs2733500	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733501	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733502	0.92[EUR][1000 genomes]
rs2733504	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733507	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733508	0.92[EUR][1000 genomes]
rs2733509	0.94[EUR][1000 genomes]
rs2733510	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733514	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733515	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2733516	0.97[EUR][1000 genomes]
rs2733517	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733518	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733519	0.97[EUR][1000 genomes]
rs2733520	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2733521	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733522	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2733523	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733524	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733525	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2733526	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2733527	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2733528	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733529	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733530	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283906	0.91[EUR][1000 genomes]
rs283907	0.91[EUR][1000 genomes]
rs283908	0.91[EUR][1000 genomes]
rs283909	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283911	0.91[EUR][1000 genomes]
rs283912	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283913	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283914	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs283915	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283916	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283917	0.87[EUR][1000 genomes]
rs283918	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283919	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283921	0.90[EUR][1000 genomes]
rs283922	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283923	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283925	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283927	0.88[EUR][1000 genomes]
rs283928	0.81[EUR][1000 genomes]
rs283929	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs283930	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs283931	0.87[EUR][1000 genomes]
rs283934	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs283935	0.86[EUR][1000 genomes]
rs283936	0.82[AMR][1000 genomes]
rs283937	0.85[EUR][1000 genomes]
rs283938	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283940	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs283941	0.88[EUR][1000 genomes]
rs283942	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs283943	0.88[EUR][1000 genomes]
rs283944	0.88[EUR][1000 genomes]
rs283945	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs283946	0.88[EUR][1000 genomes]
rs283947	0.88[EUR][1000 genomes]
rs283948	0.88[EUR][1000 genomes]
rs283949	0.88[EUR][1000 genomes]
rs28408438	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28454413	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34502358	0.86[EUR][1000 genomes]
rs34892692	0.80[EUR][1000 genomes]
rs35126965	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35234876	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4582042	0.85[EUR][1000 genomes]
rs4615062	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58307801	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62245860	0.89[EUR][1000 genomes]
rs62245914	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442679	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442680	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442681	0.81[EUR][1000 genomes]
rs6442683	0.81[EUR][1000 genomes]
rs6762516	0.80[AMR][1000 genomes]
rs6763593	0.80[AMR][1000 genomes]
rs6785870	0.86[EUR][1000 genomes]
rs6787756	0.81[EUR][1000 genomes]
rs6799259	0.83[EUR][1000 genomes]
rs6802891	0.85[EUR][1000 genomes]
rs723813	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728022	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7617933	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623979	0.84[EUR][1000 genomes]
rs7630286	0.86[EUR][1000 genomes]
rs7630433	0.86[EUR][1000 genomes]
rs7632989	0.81[EUR][1000 genomes]
rs7636787	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7642719	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7645756	0.86[EUR][1000 genomes]
rs7648883	0.84[EUR][1000 genomes]
rs7651278	0.81[EUR][1000 genomes]
rs767685	0.91[EUR][1000 genomes]
rs9810675	0.81[EUR][1000 genomes]
rs9820703	0.80[AMR][1000 genomes]
rs9848610	0.80[EUR][1000 genomes]
rs9848766	0.80[AMR][1000 genomes]
rs9850127	0.80[AMR][1000 genomes]
rs9861749	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv589841	chr3:17214070-17290465	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv876588	chr3:17214070-17314872	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17221600-17295800	Weak transcription	HSMM	muscle
2	chr3:17225600-17256000	Weak transcription	HepG2	liver
3	chr3:17225800-17254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:17236200-17254600	Weak transcription	A549	lung
5	chr3:17237200-17246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:17237200-17253800	Weak transcription	HSMMtube	muscle
7	chr3:17237600-17245800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:17237800-17248400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:17237800-17254800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:17238000-17245600	Weak transcription	Right Ventricle	heart
11	chr3:17238000-17256800	Weak transcription	Psoas Muscle	Psoas
12	chr3:17238200-17245000	Weak transcription	Osteobl	bone
13	chr3:17242600-17256400	Weak transcription	Stomach Mucosa	stomach
14	chr3:17242800-17244800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:17242800-17245600	Strong transcription	Fetal Intestine Large	intestine
16	chr3:17242800-17246000	ZNF genes & repeats	GM12878-XiMat	blood
17	chr3:17243000-17245400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:17243000-17245800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr3:17243000-17245800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr3:17243000-17246000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr3:17243200-17245800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:17243200-17246000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr3:17243200-17246000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr3:17243400-17244800	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr3:17243400-17246000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr3:17243400-17246200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:17243600-17244800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:17243600-17244800	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr3:17243800-17244800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr3:17243800-17244800	ZNF genes & repeats	Placenta	Placenta
31	chr3:17243800-17245000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr3:17243800-17246200	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr3:17244000-17244800	ZNF genes & repeats	Esophagus	oesophagus
34	chr3:17244000-17244800	ZNF genes & repeats	Fetal Stomach	stomach
35	chr3:17244000-17245000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:17244000-17245000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:17244000-17246000	ZNF genes & repeats	Dnd41	blood
38	chr3:17244200-17245000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:17244200-17248400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:17244200-17261200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:17244200-17280600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:17244400-17244800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:17244400-17245000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr3:17244400-17245200	ZNF genes & repeats	Fetal Lung	lung
45	chr3:17244400-17245400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:17244400-17246000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:17244400-17246200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:17244400-17247200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:17244400-17254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:17244400-17256800	Weak transcription	Rectal Mucosa Donor 31	rectum

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