Variant report

Variant	rs62361343
Chromosome Location	chr5:108120322-108120323
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs10035944	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10036583	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10037675	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10039951	0.88[EUR][1000 genomes]
rs10040085	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10041657	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10041659	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10042152	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10050490	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10050547	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10052208	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10052531	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10053476	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10054086	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10058035	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10061362	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10062211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10064960	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10065611	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10067117	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10070327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10073473	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10075620	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10077177	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10077917	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10078143	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10477428	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477429	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477430	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477432	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10477931	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10477932	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10477933	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10477934	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10477935	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958426	0.80[ASN][1000 genomes]
rs12719099	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13354622	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13355571	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13358881	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13359423	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13360253	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360598	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13361128	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1396444	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1423459	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17161505	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161540	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1961616	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2009646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081128	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229085	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28396658	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28415902	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28460265	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28521452	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28536717	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28611371	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28612304	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28631256	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28633642	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28651469	0.86[ASN][1000 genomes]
rs28765243	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862652	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900036	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900037	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35141056	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35464106	0.80[ASN][1000 genomes]
rs3805598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805599	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41508849	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4358573	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4361568	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4448048	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4479887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4537096	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4560594	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4560595	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5019041	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56985651	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57561676	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57703314	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57719993	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57908514	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57928004	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58193244	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58304901	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58530168	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59297048	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59821709	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60126805	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60618804	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61170909	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360774	0.80[ASN][1000 genomes]
rs62360777	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360778	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360779	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360783	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360784	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360790	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360791	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360793	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360824	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62360827	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361335	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62361336	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62361337	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62361338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62361341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62361342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361344	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361345	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62363276	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62363277	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62363280	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363281	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62363283	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62363284	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62363285	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62363287	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62363289	0.93[EUR][1000 genomes]
rs62363290	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6594341	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6594342	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6863046	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6872127	0.80[ASN][1000 genomes]
rs6873130	0.80[ASN][1000 genomes]
rs6873917	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6874497	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6874968	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6875158	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6876542	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6876606	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6881932	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6888173	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889995	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6890301	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6890309	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6894386	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897096	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6897329	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6897572	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7715658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7716358	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7719821	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7724385	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889269	0.98[EUR][1000 genomes]
rs9326749	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326750	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9326751	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9326752	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9885265	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9885428	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108086200-108120600	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:108090200-108127600	Weak transcription	NH-A	brain
3	chr5:108095000-108122600	Weak transcription	Right Ventricle	heart
4	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:108098400-108128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:108099400-108122400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:108101600-108127600	Weak transcription	Osteobl	bone
8	chr5:108105400-108123400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:108105400-108130600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:108105400-108133200	Weak transcription	NHDF-Ad	bronchial
11	chr5:108112600-108137200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:108117600-108123600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:108117800-108122800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:108117800-108138200	Weak transcription	Liver	Liver
15	chr5:108118000-108122200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:108118000-108122800	Weak transcription	Brain Substantia Nigra	brain
17	chr5:108118000-108132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:108118200-108126600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:108118200-108136800	Weak transcription	NHLF	lung
20	chr5:108119200-108121000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr5:108119200-108121000	ZNF genes & repeats	Fetal Kidney	kidney
22	chr5:108119200-108121200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr5:108119200-108121200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:108119200-108121200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr5:108119200-108123800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr5:108119400-108120400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr5:108119400-108120800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:108119400-108120800	ZNF genes & repeats	Fetal Lung	lung
29	chr5:108119400-108120800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr5:108119400-108121000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr5:108119400-108121000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:108119400-108121000	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr5:108119400-108121200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr5:108119400-108121200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:108119400-108121200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr5:108119400-108121200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:108119400-108121200	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr5:108119400-108121200	ZNF genes & repeats	Fetal Brain Female	brain
39	chr5:108119400-108121200	ZNF genes & repeats	Lung	lung
40	chr5:108119400-108121200	ZNF genes & repeats	Dnd41	blood
41	chr5:108119400-108121400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:108119400-108121400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:108119400-108121400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:108119400-108121400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:108119400-108121400	ZNF genes & repeats	Esophagus	oesophagus
46	chr5:108119400-108121400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:108119400-108121400	ZNF genes & repeats	Fetal Stomach	stomach
48	chr5:108119400-108121400	Strong transcription	Hela-S3	cervix
49	chr5:108119400-108121600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:108119400-108123200	ZNF genes & repeats	Fetal Intestine Small	intestine

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