Variant report

Variant	rs6943439
Chromosome Location	chr7:66670308-66670309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:253)

rs_ID	r²[population]
rs10081276	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10081302	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10081331	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10081333	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10081344	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10081381	0.86[EUR][1000 genomes]
rs10155890	0.81[EUR][1000 genomes]
rs10155918	0.84[EUR][1000 genomes]
rs10155972	0.84[EUR][1000 genomes]
rs10155983	0.83[EUR][1000 genomes]
rs10156209	0.81[EUR][1000 genomes]
rs10230059	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10232876	0.92[EUR][1000 genomes]
rs10233388	0.91[EUR][1000 genomes]
rs10233507	0.92[EUR][1000 genomes]
rs10235588	0.84[EUR][1000 genomes]
rs10242431	0.84[EUR][1000 genomes]
rs10243217	0.82[EUR][1000 genomes]
rs10243421	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10246623	0.84[EUR][1000 genomes]
rs10247272	0.93[EUR][1000 genomes]
rs10248812	0.84[EUR][1000 genomes]
rs10250113	0.82[EUR][1000 genomes]
rs10250487	0.84[EUR][1000 genomes]
rs10251763	0.84[EUR][1000 genomes]
rs10252143	0.84[EUR][1000 genomes]
rs10253339	0.80[EUR][1000 genomes]
rs10254788	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10256139	0.84[EUR][1000 genomes]
rs10257403	0.83[EUR][1000 genomes]
rs10257949	0.83[EUR][1000 genomes]
rs10258678	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10261694	0.81[EUR][1000 genomes]
rs10262065	0.83[EUR][1000 genomes]
rs10262150	0.86[EUR][1000 genomes]
rs10267300	0.83[EUR][1000 genomes]
rs10270292	0.85[EUR][1000 genomes]
rs10272347	0.87[EUR][1000 genomes]
rs10272424	0.90[EUR][1000 genomes]
rs10272591	0.87[EUR][1000 genomes]
rs10273692	0.92[EUR][1000 genomes]
rs10277509	0.90[EUR][1000 genomes]
rs10280699	0.81[EUR][1000 genomes]
rs1045053	0.81[EUR][1000 genomes]
rs1045064	0.84[EUR][1000 genomes]
rs1045174	0.84[EUR][1000 genomes]
rs10950062	0.93[EUR][1000 genomes]
rs10950064	0.93[EUR][1000 genomes]
rs11760347	0.89[EUR][1000 genomes]
rs11761100	0.89[EUR][1000 genomes]
rs11761577	0.80[EUR][1000 genomes]
rs11764349	0.84[EUR][1000 genomes]
rs11764376	0.88[EUR][1000 genomes]
rs11768675	0.85[EUR][1000 genomes]
rs11772455	0.89[EUR][1000 genomes]
rs11773274	0.89[EUR][1000 genomes]
rs11773730	0.90[EUR][1000 genomes]
rs11976638	0.93[EUR][1000 genomes]
rs12154252	0.86[EUR][1000 genomes]
rs12154257	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12154419	0.81[EUR][1000 genomes]
rs12154688	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12154886	0.88[EUR][1000 genomes]
rs12155044	0.83[EUR][1000 genomes]
rs12155051	0.81[EUR][1000 genomes]
rs12155261	0.88[EUR][1000 genomes]
rs12155330	0.93[EUR][1000 genomes]
rs13228872	0.83[EUR][1000 genomes]
rs13236735	0.80[EUR][1000 genomes]
rs13236943	0.81[EUR][1000 genomes]
rs13239980	0.84[EUR][1000 genomes]
rs13244997	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1581502	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1608581	0.84[EUR][1000 genomes]
rs1608582	0.83[EUR][1000 genomes]
rs17139656	0.90[EUR][1000 genomes]
rs17726	0.84[EUR][1000 genomes]
rs1815098	0.81[EUR][1000 genomes]
rs1815101	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2019826	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2177496	0.84[EUR][1000 genomes]
rs2421393	0.91[EUR][1000 genomes]
rs2421398	0.95[EUR][1000 genomes]
rs2421404	0.91[EUR][1000 genomes]
rs2421405	0.90[EUR][1000 genomes]
rs2421419	0.83[EUR][1000 genomes]
rs2421425	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2690170	0.81[EUR][1000 genomes]
rs28366417	0.82[EUR][1000 genomes]
rs28420076	0.84[EUR][1000 genomes]
rs28464901	0.86[EUR][1000 genomes]
rs28497071	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28502004	0.86[EUR][1000 genomes]
rs28534521	0.81[EUR][1000 genomes]
rs28556313	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28621376	0.83[EUR][1000 genomes]
rs28715521	0.81[EUR][1000 genomes]
rs28749249	0.90[EUR][1000 genomes]
rs28750410	0.90[EUR][1000 genomes]
rs28759371	0.83[EUR][1000 genomes]
rs28764821	0.83[EUR][1000 genomes]
rs28767482	0.90[EUR][1000 genomes]
rs28806258	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28808071	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28860910	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2901424	0.93[EUR][1000 genomes]
rs2949109	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3107871	0.84[EUR][1000 genomes]
rs3107873	0.82[EUR][1000 genomes]
rs34145691	0.87[EUR][1000 genomes]
rs34145957	0.85[EUR][1000 genomes]
rs34146912	0.92[EUR][1000 genomes]
rs34176733	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34237838	0.85[EUR][1000 genomes]
rs34267978	0.86[EUR][1000 genomes]
rs34344363	0.81[EUR][1000 genomes]
rs34463275	0.93[EUR][1000 genomes]
rs34471265	0.84[EUR][1000 genomes]
rs34566330	0.89[EUR][1000 genomes]
rs34567129	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34574768	0.81[EUR][1000 genomes]
rs34654147	0.87[EUR][1000 genomes]
rs34773993	0.80[EUR][1000 genomes]
rs35048638	0.82[EUR][1000 genomes]
rs35064061	0.93[EUR][1000 genomes]
rs35120837	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35290283	0.92[EUR][1000 genomes]
rs35325827	0.85[EUR][1000 genomes]
rs35336066	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35387955	0.93[EUR][1000 genomes]
rs35399585	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35521959	0.89[EUR][1000 genomes]
rs35599428	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35649461	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35669114	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35723315	0.89[EUR][1000 genomes]
rs35918453	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35970624	0.93[EUR][1000 genomes]
rs35982871	0.90[EUR][1000 genomes]
rs36108108	0.82[EUR][1000 genomes]
rs3897072	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3962076	0.84[EUR][1000 genomes]
rs3980767	0.86[EUR][1000 genomes]
rs3980775	0.90[EUR][1000 genomes]
rs3980776	0.85[EUR][1000 genomes]
rs3980778	0.86[EUR][1000 genomes]
rs3980790	0.94[EUR][1000 genomes]
rs4101640	0.86[EUR][1000 genomes]
rs4103731	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4145350	0.87[EUR][1000 genomes]
rs4295533	0.87[EUR][1000 genomes]
rs4383874	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4433024	0.94[EUR][1000 genomes]
rs4486076	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4496851	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4504527	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4524666	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4535609	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4551224	0.85[EUR][1000 genomes]
rs4552791	0.87[EUR][1000 genomes]
rs4618581	0.84[EUR][1000 genomes]
rs4621684	0.84[EUR][1000 genomes]
rs4636084	0.86[EUR][1000 genomes]
rs4717353	0.82[EUR][1000 genomes]
rs4717354	0.92[EUR][1000 genomes]
rs4718463	0.82[EUR][1000 genomes]
rs4718464	0.84[EUR][1000 genomes]
rs4718469	0.82[EUR][1000 genomes]
rs4718470	0.86[EUR][1000 genomes]
rs4718471	0.85[EUR][1000 genomes]
rs4718475	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4718477	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4718478	0.93[EUR][1000 genomes]
rs4718486	0.86[EUR][1000 genomes]
rs4718492	0.84[EUR][1000 genomes]
rs4718493	0.84[EUR][1000 genomes]
rs4718500	0.84[EUR][1000 genomes]
rs4718501	0.81[EUR][1000 genomes]
rs55756354	0.87[EUR][1000 genomes]
rs55921608	0.89[EUR][1000 genomes]
rs56001319	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56167042	0.84[EUR][1000 genomes]
rs56397344	0.87[EUR][1000 genomes]
rs61061833	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61404757	0.86[EUR][1000 genomes]
rs6460333	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66806481	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66870123	0.84[EUR][1000 genomes]
rs66954241	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67650940	0.92[EUR][1000 genomes]
rs67855845	0.87[EUR][1000 genomes]
rs67890875	0.92[EUR][1000 genomes]
rs67902540	0.85[EUR][1000 genomes]
rs6942913	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944637	0.91[EUR][1000 genomes]
rs6944968	0.91[EUR][1000 genomes]
rs6947110	0.84[EUR][1000 genomes]
rs6947488	0.93[EUR][1000 genomes]
rs6948588	0.89[EUR][1000 genomes]
rs6948757	0.84[EUR][1000 genomes]
rs6948793	0.85[EUR][1000 genomes]
rs6949429	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6951468	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6952206	0.84[EUR][1000 genomes]
rs6954515	0.92[EUR][1000 genomes]
rs6954642	0.92[EUR][1000 genomes]
rs6960122	0.81[EUR][1000 genomes]
rs6961084	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6962901	0.84[EUR][1000 genomes]
rs6963793	0.92[EUR][1000 genomes]
rs6964179	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6967217	0.84[EUR][1000 genomes]
rs6967381	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6967876	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6969270	0.84[EUR][1000 genomes]
rs6979001	0.86[EUR][1000 genomes]
rs6979706	0.84[EUR][1000 genomes]
rs71535637	0.82[EUR][1000 genomes]
rs71535638	0.84[EUR][1000 genomes]
rs71563180	0.81[EUR][1000 genomes]
rs71563196	0.82[EUR][1000 genomes]
rs73135118	0.82[EUR][1000 genomes]
rs73140602	0.87[EUR][1000 genomes]
rs73142604	0.87[EUR][1000 genomes]
rs73142680	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73144526	0.82[EUR][1000 genomes]
rs73377106	0.84[EUR][1000 genomes]
rs7357171	0.80[EUR][1000 genomes]
rs7778900	0.81[EUR][1000 genomes]
rs7779069	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7780700	0.85[EUR][1000 genomes]
rs7781804	0.85[EUR][1000 genomes]
rs7792907	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7795976	0.84[EUR][1000 genomes]
rs7809415	0.84[EUR][1000 genomes]
rs7811233	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9654771	0.87[EUR][1000 genomes]
rs9654851	0.81[EUR][1000 genomes]
rs9654853	0.86[EUR][1000 genomes]
rs9654854	0.86[EUR][1000 genomes]
rs9654859	0.84[EUR][1000 genomes]
rs9690083	0.89[EUR][1000 genomes]
rs9691404	0.86[EUR][1000 genomes]
rs9692279	0.87[EUR][1000 genomes]
rs9769387	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9886204	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9886206	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9886263	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9886290	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9886306	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9886326	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9986784	0.91[EUR][1000 genomes]
rs9986995	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	esv2422035	chr7:66621964-66676630	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv970518	chr7:66647675-66742783	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6943439	TYW1	cis	Heart Left Ventricle	GTEx
rs6943439	TYW1	cis	Nerve Tibial	GTEx
rs6943439	TYW1	cis	Muscle Skeletal	GTEx
rs6943439	TYW1	cis	Esophagus Mucosa	GTEx
rs6943439	TYW1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66640600-66677200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:66647000-66677400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:66648200-66679800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:66649200-66677200	Weak transcription	Right Ventricle	heart
8	chr7:66649200-66679200	Weak transcription	NHEK	skin
9	chr7:66651200-66675400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:66652800-66675600	Weak transcription	Aorta	Aorta
11	chr7:66654400-66677400	Weak transcription	Esophagus	oesophagus
12	chr7:66654400-66681600	Weak transcription	Spleen	Spleen
13	chr7:66654600-66678200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:66654600-66683400	Weak transcription	Pancreas	Pancrea
15	chr7:66654600-66684600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:66654600-66704600	Weak transcription	Gastric	stomach
17	chr7:66654600-66709600	Weak transcription	Lung	lung
18	chr7:66655000-66675400	Weak transcription	Thymus	Thymus
19	chr7:66656000-66677000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:66656400-66672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:66656400-66676000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:66656600-66671800	Weak transcription	K562	blood
23	chr7:66656600-66675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:66658000-66673600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:66658000-66703200	Weak transcription	Ovary	ovary
26	chr7:66658200-66672200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:66658200-66672800	Weak transcription	Psoas Muscle	Psoas
28	chr7:66658200-66678600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:66658400-66677400	Weak transcription	Liver	Liver
30	chr7:66658400-66678200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:66658600-66674000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:66658600-66675400	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:66658600-66677400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:66658600-66677400	Weak transcription	Brain Substantia Nigra	brain
35	chr7:66658600-66678600	Weak transcription	A549	lung
36	chr7:66658600-66679600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:66658600-66691000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:66658800-66677400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:66659000-66675400	Weak transcription	HSMMtube	muscle
40	chr7:66659000-66678200	Weak transcription	Left Ventricle	heart
41	chr7:66660000-66675400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:66660400-66674000	Weak transcription	Fetal Lung	lung
43	chr7:66660400-66675400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:66660400-66675400	Weak transcription	Adipose Nuclei	Adipose
45	chr7:66660400-66675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:66660400-66677000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:66660600-66676400	Weak transcription	Fetal Brain Female	brain
48	chr7:66660600-66677400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:66660600-66701600	Weak transcription	Fetal Kidney	kidney
50	chr7:66660600-66703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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