Variant report

Variant	rs6794164
Chromosome Location	chr3:17328837-17328838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17327035..17329252-chr3:17332742..17334627,2	K562	blood:
2	chr3:17327752..17329716-chr3:17331813..17334242,2	K562	blood:

Extended variants
information (count: 259 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:255)

rs_ID	r²[population]
rs10446414	1.00[EUR][1000 genomes]
rs10446443	1.00[EUR][1000 genomes]
rs10446444	1.00[EUR][1000 genomes]
rs10446445	1.00[EUR][1000 genomes]
rs10510473	0.89[EUR][1000 genomes]
rs10510474	0.89[EUR][1000 genomes]
rs11128821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11128822	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11128829	0.89[EUR][1000 genomes]
rs11128830	0.89[EUR][1000 genomes]
rs11128831	0.89[EUR][1000 genomes]
rs11128833	0.89[EUR][1000 genomes]
rs11915044	0.89[EUR][1000 genomes]
rs11915588	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11916205	1.00[EUR][1000 genomes]
rs11917482	0.89[EUR][1000 genomes]
rs11918295	0.89[EUR][1000 genomes]
rs11918387	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11920557	0.89[EUR][1000 genomes]
rs11921244	0.89[EUR][1000 genomes]
rs11921357	1.00[EUR][1000 genomes]
rs11922177	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11922534	0.89[EUR][1000 genomes]
rs11922536	0.89[EUR][1000 genomes]
rs11922699	0.84[EUR][1000 genomes]
rs11922701	0.89[EUR][1000 genomes]
rs11924717	0.89[EUR][1000 genomes]
rs11924920	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11924970	0.89[EUR][1000 genomes]
rs11925427	0.89[EUR][1000 genomes]
rs11929394	0.85[EUR][1000 genomes]
rs12106762	0.89[EUR][1000 genomes]
rs12106770	0.89[EUR][1000 genomes]
rs1374199	0.89[EUR][1000 genomes]
rs1446301	0.89[EUR][1000 genomes]
rs1446302	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1596863	0.81[EUR][1000 genomes]
rs17029242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17029249	0.89[EUR][1000 genomes]
rs17043253	0.95[EUR][1000 genomes]
rs17043279	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17043383	1.00[EUR][1000 genomes]
rs17043392	1.00[EUR][1000 genomes]
rs17043425	1.00[EUR][1000 genomes]
rs17043427	1.00[EUR][1000 genomes]
rs17043439	1.00[EUR][1000 genomes]
rs17043444	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17043453	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17043460	1.00[EUR][1000 genomes]
rs17043463	1.00[EUR][1000 genomes]
rs17043467	1.00[EUR][1000 genomes]
rs17043486	0.95[EUR][1000 genomes]
rs17043499	0.89[EUR][1000 genomes]
rs17043506	0.89[EUR][1000 genomes]
rs17043514	0.89[EUR][1000 genomes]
rs17043518	0.89[EUR][1000 genomes]
rs17043556	0.89[EUR][1000 genomes]
rs17043558	0.89[EUR][1000 genomes]
rs17043565	0.89[EUR][1000 genomes]
rs17043568	0.89[EUR][1000 genomes]
rs17043571	0.89[EUR][1000 genomes]
rs17043574	0.89[EUR][1000 genomes]
rs17043578	0.89[EUR][1000 genomes]
rs17043579	0.89[EUR][1000 genomes]
rs17043585	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17043589	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17043618	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17043623	0.89[EUR][1000 genomes]
rs17043631	0.89[EUR][1000 genomes]
rs17043643	0.89[EUR][1000 genomes]
rs17043652	0.89[EUR][1000 genomes]
rs17200781	0.95[EUR][1000 genomes]
rs17272978	0.95[EUR][1000 genomes]
rs17273048	0.84[EUR][1000 genomes]
rs1823099	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2028873	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2348364	0.89[EUR][1000 genomes]
rs2881803	0.89[EUR][1000 genomes]
rs34073532	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35302807	0.89[EUR][1000 genomes]
rs4627740	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56660137	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56757867	0.89[EUR][1000 genomes]
rs56824662	0.89[EUR][1000 genomes]
rs56950773	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57153645	0.89[EUR][1000 genomes]
rs57161733	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57201363	0.89[EUR][1000 genomes]
rs57213690	1.00[EUR][1000 genomes]
rs57427954	0.89[EUR][1000 genomes]
rs57825001	0.89[EUR][1000 genomes]
rs57904270	0.89[EUR][1000 genomes]
rs58035365	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58066441	0.89[EUR][1000 genomes]
rs58233162	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58286882	0.89[EUR][1000 genomes]
rs58473554	0.85[EUR][1000 genomes]
rs58475382	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58617436	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58653570	0.89[EUR][1000 genomes]
rs58856794	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59394144	0.89[EUR][1000 genomes]
rs59460836	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59714365	0.89[EUR][1000 genomes]
rs60019424	0.89[EUR][1000 genomes]
rs60066286	0.89[EUR][1000 genomes]
rs60158152	0.89[EUR][1000 genomes]
rs60303234	0.89[EUR][1000 genomes]
rs60580179	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60909298	0.89[EUR][1000 genomes]
rs60964146	0.89[EUR][1000 genomes]
rs60993983	0.89[EUR][1000 genomes]
rs61057228	0.89[EUR][1000 genomes]
rs61186520	1.00[EUR][1000 genomes]
rs61626295	0.89[EUR][1000 genomes]
rs6766514	0.89[EUR][1000 genomes]
rs6767839	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6768716	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6773442	1.00[EUR][1000 genomes]
rs6778109	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6780076	0.89[EUR][1000 genomes]
rs6782575	0.89[EUR][1000 genomes]
rs6784697	1.00[EUR][1000 genomes]
rs6790367	0.95[EUR][1000 genomes]
rs6792589	0.89[EUR][1000 genomes]
rs6792747	0.89[EUR][1000 genomes]
rs6795454	0.89[EUR][1000 genomes]
rs6803351	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6803999	0.89[EUR][1000 genomes]
rs6804323	0.89[EUR][1000 genomes]
rs6808999	1.00[EUR][1000 genomes]
rs6809000	0.89[EUR][1000 genomes]
rs73143799	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145808	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145809	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145814	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145818	1.00[EUR][1000 genomes]
rs73145819	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145823	1.00[EUR][1000 genomes]
rs73145825	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145827	1.00[EUR][1000 genomes]
rs73145829	1.00[EUR][1000 genomes]
rs73145846	1.00[EUR][1000 genomes]
rs73145856	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73145860	1.00[EUR][1000 genomes]
rs73145862	1.00[EUR][1000 genomes]
rs73145864	1.00[EUR][1000 genomes]
rs73145867	1.00[EUR][1000 genomes]
rs73145877	1.00[EUR][1000 genomes]
rs73145883	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73145887	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73145894	0.89[EUR][1000 genomes]
rs73145896	0.89[EUR][1000 genomes]
rs73145900	0.89[EUR][1000 genomes]
rs73147810	0.81[EUR][1000 genomes]
rs73153017	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153018	0.89[EUR][1000 genomes]
rs73153020	0.89[EUR][1000 genomes]
rs73153024	0.89[EUR][1000 genomes]
rs73153026	0.89[EUR][1000 genomes]
rs73153027	0.89[EUR][1000 genomes]
rs73153028	0.89[EUR][1000 genomes]
rs73153029	0.89[EUR][1000 genomes]
rs73153034	0.89[EUR][1000 genomes]
rs73153038	0.89[EUR][1000 genomes]
rs73153039	0.89[EUR][1000 genomes]
rs73153042	0.89[EUR][1000 genomes]
rs73153047	0.89[EUR][1000 genomes]
rs73153048	0.89[EUR][1000 genomes]
rs73153050	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153051	0.89[EUR][1000 genomes]
rs73153052	0.89[EUR][1000 genomes]
rs73153057	0.89[EUR][1000 genomes]
rs73153058	0.89[EUR][1000 genomes]
rs73153059	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153061	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153063	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153064	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153068	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153069	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153070	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153071	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153072	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153073	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153074	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73153075	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73154801	0.89[EUR][1000 genomes]
rs73156310	0.89[EUR][1000 genomes]
rs73156314	0.89[EUR][1000 genomes]
rs73156319	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73156329	0.89[EUR][1000 genomes]
rs73156333	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73156342	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73156346	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73156350	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73156352	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73156353	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73156355	0.89[EUR][1000 genomes]
rs73156356	0.89[EUR][1000 genomes]
rs73156363	0.89[EUR][1000 genomes]
rs73156367	0.89[EUR][1000 genomes]
rs73156369	0.89[EUR][1000 genomes]
rs73156372	0.89[EUR][1000 genomes]
rs73156373	0.89[EUR][1000 genomes]
rs73156374	0.89[EUR][1000 genomes]
rs73156378	0.89[EUR][1000 genomes]
rs73156383	0.89[EUR][1000 genomes]
rs73156387	0.89[EUR][1000 genomes]
rs73156390	0.89[EUR][1000 genomes]
rs73156391	0.89[EUR][1000 genomes]
rs73156395	0.89[EUR][1000 genomes]
rs73156397	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73158011	0.89[EUR][1000 genomes]
rs73161403	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73161408	0.89[EUR][1000 genomes]
rs73161409	0.89[EUR][1000 genomes]
rs73161412	0.89[EUR][1000 genomes]
rs73161414	0.89[EUR][1000 genomes]
rs73161417	0.89[EUR][1000 genomes]
rs73161422	0.89[EUR][1000 genomes]
rs73161425	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73161441	0.89[EUR][1000 genomes]
rs73161446	0.89[EUR][1000 genomes]
rs73161453	0.89[EUR][1000 genomes]
rs73161465	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73161470	0.89[EUR][1000 genomes]
rs73161472	0.89[EUR][1000 genomes]
rs73161481	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73161483	0.89[EUR][1000 genomes]
rs73161486	0.89[EUR][1000 genomes]
rs73161488	0.89[EUR][1000 genomes]
rs73161491	0.89[EUR][1000 genomes]
rs73161492	0.89[EUR][1000 genomes]
rs73161493	0.89[EUR][1000 genomes]
rs73161500	0.89[EUR][1000 genomes]
rs73161502	0.89[EUR][1000 genomes]
rs7427235	0.89[EUR][1000 genomes]
rs7427885	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7427909	0.84[EUR][1000 genomes]
rs7427937	0.84[EUR][1000 genomes]
rs7432241	0.89[EUR][1000 genomes]
rs7610316	0.86[EUR][1000 genomes]
rs7612938	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7618531	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7618836	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7621906	0.90[EUR][1000 genomes]
rs7621978	0.86[EUR][1000 genomes]
rs7622831	1.00[EUR][1000 genomes]
rs7628126	0.89[EUR][1000 genomes]
rs7634642	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7650295	0.89[EUR][1000 genomes]
rs959774	1.00[EUR][1000 genomes]
rs9631485	0.89[EUR][1000 genomes]
rs9858820	0.89[EUR][1000 genomes]
rs9876715	0.89[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:66 , 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	chr3:17279800-17329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:17296600-17330200	Weak transcription	Left Ventricle	heart
7	chr3:17298800-17373000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:17301400-17335400	Weak transcription	Ovary	ovary
9	chr3:17311000-17330400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:17313800-17332200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:17315000-17332400	Weak transcription	GM12878-XiMat	blood
12	chr3:17315800-17330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:17316200-17330200	Weak transcription	Fetal Intestine Large	intestine
14	chr3:17319600-17330200	Weak transcription	Dnd41	blood
15	chr3:17319600-17332400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:17319600-17332400	Weak transcription	Adipose Nuclei	Adipose
17	chr3:17319800-17330000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:17319800-17351200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:17320400-17330200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:17320400-17330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:17320600-17330200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:17320600-17330200	Weak transcription	Lung	lung
23	chr3:17320600-17330200	Weak transcription	Spleen	Spleen
24	chr3:17320600-17330400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr3:17320800-17330400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr3:17320800-17332200	Weak transcription	Colonic Mucosa	Colon
27	chr3:17321200-17332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:17321400-17329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:17321400-17330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:17321600-17332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:17321600-17354200	Weak transcription	Placenta	Placenta
32	chr3:17321800-17330200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:17321800-17332000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr3:17322000-17330400	Weak transcription	Esophagus	oesophagus
35	chr3:17322000-17330400	Weak transcription	Pancreas	Pancrea
36	chr3:17322200-17342800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr3:17322600-17330200	Weak transcription	Fetal Stomach	stomach
38	chr3:17322600-17330200	Weak transcription	Gastric	stomach
39	chr3:17323000-17334600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:17323200-17329800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:17323200-17330200	Weak transcription	Fetal Intestine Small	intestine
42	chr3:17323800-17330400	Weak transcription	Liver	Liver
43	chr3:17324600-17333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:17325200-17330000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr3:17325400-17329200	Weak transcription	Primary B cells from cord blood	blood
46	chr3:17325800-17330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:17327400-17333000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr3:17327800-17343000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr3:17328000-17332400	Weak transcription	Fetal Lung	lung
50	chr3:17328200-17329800	Enhancers	Fetal Heart	heart

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