Variant report

Variant	rs2485632
Chromosome Location	chr6:146193228-146193229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:210)

rs_ID	r²[population]
rs1004752	0.84[EUR][1000 genomes]
rs1011596	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1011597	0.89[EUR][1000 genomes]
rs10214925	0.87[EUR][1000 genomes]
rs10223508	0.83[ASN][1000 genomes]
rs10447449	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1055212	0.89[EUR][1000 genomes]
rs1062067	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1062068	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10872580	0.94[EUR][1000 genomes]
rs11155442	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1133832	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11965018	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12190966	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12199362	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13214277	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1337839	0.83[EUR][1000 genomes]
rs1337841	0.86[EUR][1000 genomes]
rs13437042	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1415744	0.83[EUR][1000 genomes]
rs1415746	0.93[EUR][1000 genomes]
rs1415747	0.93[EUR][1000 genomes]
rs1569540	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1577916	0.89[EUR][1000 genomes]
rs1832362	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1883365	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1890171	0.91[EUR][1000 genomes]
rs1986729	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2050027	0.90[EUR][1000 genomes]
rs2064185	0.88[EUR][1000 genomes]
rs2072911	0.81[EUR][1000 genomes]
rs2092263	0.84[EUR][1000 genomes]
rs2142981	0.93[EUR][1000 genomes]
rs2142983	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2243665	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2246334	0.96[EUR][1000 genomes]
rs2247206	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247211	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247317	0.98[ASN][1000 genomes]
rs2247429	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2247666	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2249147	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249386	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2250387	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253194	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253307	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253648	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253654	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2253764	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253768	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253880	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2253886	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2253887	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254257	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2254283	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254288	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2256998	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265467	0.96[ASN][1000 genomes]
rs2265468	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2265469	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265471	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265472	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2265474	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2265477	0.98[ASN][1000 genomes]
rs2265915	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2265916	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265917	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265918	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265919	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2328707	0.88[EUR][1000 genomes]
rs2328709	0.94[EUR][1000 genomes]
rs2492855	0.81[ASN][1000 genomes]
rs2748502	0.81[ASN][1000 genomes]
rs2777477	0.81[ASN][1000 genomes]
rs2814879	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2814880	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811102	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3923579	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3924498	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3924499	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3924502	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4075694	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4075695	0.91[ASN][1000 genomes]
rs4075696	0.91[ASN][1000 genomes]
rs4243478	0.84[ASN][1000 genomes]
rs4280983	0.80[EUR][1000 genomes]
rs4314514	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4316025	0.95[ASN][1000 genomes]
rs4360151	0.91[ASN][1000 genomes]
rs4391282	0.84[ASN][1000 genomes]
rs4435956	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4455694	0.86[EUR][1000 genomes]
rs4566902	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4895683	0.90[EUR][1000 genomes]
rs4895684	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4896837	0.86[EUR][1000 genomes]
rs4896838	0.86[EUR][1000 genomes]
rs4896839	0.86[EUR][1000 genomes]
rs4896841	0.89[EUR][1000 genomes]
rs4896842	0.89[EUR][1000 genomes]
rs4896843	0.88[EUR][1000 genomes]
rs4896844	0.93[EUR][1000 genomes]
rs4896852	0.80[EUR][1000 genomes]
rs56181683	0.83[ASN][1000 genomes]
rs62435810	0.96[EUR][1000 genomes]
rs6570713	0.93[EUR][1000 genomes]
rs6570715	0.87[EUR][1000 genomes]
rs6570716	0.84[EUR][1000 genomes]
rs6570717	0.91[EUR][1000 genomes]
rs6570719	0.89[EUR][1000 genomes]
rs6570723	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6570724	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6901888	0.87[EUR][1000 genomes]
rs6902913	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6906258	0.93[EUR][1000 genomes]
rs6906402	0.93[EUR][1000 genomes]
rs6910790	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6915718	0.93[EUR][1000 genomes]
rs6917135	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6917482	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6921073	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6922507	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6923545	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6923678	0.89[EUR][1000 genomes]
rs6924159	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6926076	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6926657	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6928007	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930154	0.83[EUR][1000 genomes]
rs6931553	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6933161	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6937661	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs697054	0.84[EUR][1000 genomes]
rs697055	0.85[EUR][1000 genomes]
rs697056	0.85[EUR][1000 genomes]
rs702314	0.82[EUR][1000 genomes]
rs702317	0.86[EUR][1000 genomes]
rs702318	0.86[EUR][1000 genomes]
rs702319	0.86[EUR][1000 genomes]
rs702320	0.85[EUR][1000 genomes]
rs702321	0.83[EUR][1000 genomes]
rs702323	0.83[EUR][1000 genomes]
rs702324	0.86[EUR][1000 genomes]
rs735535	0.84[EUR][1000 genomes]
rs735536	0.84[EUR][1000 genomes]
rs7739735	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7740785	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742333	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7744014	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7745696	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7747576	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7752286	0.93[EUR][1000 genomes]
rs7753092	0.81[EUR][1000 genomes]
rs7753696	0.81[AFR][1000 genomes]
rs7753770	0.89[EUR][1000 genomes]
rs7753833	0.89[EUR][1000 genomes]
rs7762562	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9373473	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9373475	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9373476	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9376957	0.83[EUR][1000 genomes]
rs9376961	0.86[EUR][1000 genomes]
rs9376968	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376970	0.81[EUR][1000 genomes]
rs9376971	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9386128	0.86[EUR][1000 genomes]
rs9386131	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9386132	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9386133	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9386134	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9386141	0.83[ASN][1000 genomes]
rs9390349	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9390354	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9390355	0.90[EUR][1000 genomes]
rs9390356	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9390357	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9390358	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390365	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9399564	0.89[EUR][1000 genomes]
rs9399565	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9399567	0.97[EUR][1000 genomes]
rs9399569	0.95[ASN][1000 genomes]
rs9399571	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403739	0.83[EUR][1000 genomes]
rs9403741	0.84[EUR][1000 genomes]
rs9403746	0.89[EUR][1000 genomes]
rs9403747	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9403749	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9403750	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9403755	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403756	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9403757	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9485018	0.83[EUR][1000 genomes]
rs9485019	0.85[EUR][1000 genomes]
rs9485021	0.86[EUR][1000 genomes]
rs9485024	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9497395	0.82[EUR][1000 genomes]
rs9497396	0.83[EUR][1000 genomes]
rs9497401	0.89[EUR][1000 genomes]
rs9497406	0.88[EUR][1000 genomes]
rs9497419	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9497424	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9497425	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9497427	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9497431	0.81[EUR][1000 genomes]
rs9497434	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9497435	0.86[ASN][1000 genomes]
rs9791313	0.86[ASN][1000 genomes]
rs991507	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2485632	RP11-545I5.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146172200-146202400	Weak transcription	Adipose Nuclei	Adipose
2	chr6:146177600-146204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:146182400-146196600	Weak transcription	Fetal Heart	heart
4	chr6:146185200-146212200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:146186400-146213200	Weak transcription	Brain Anterior Caudate	brain
6	chr6:146186800-146199400	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:146188000-146196400	Weak transcription	Left Ventricle	heart
8	chr6:146188000-146196600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:146188000-146201400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:146188000-146218800	Weak transcription	Right Ventricle	heart
11	chr6:146188400-146201200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:146188600-146196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:146188800-146209000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:146189200-146202400	Weak transcription	Thymus	Thymus
15	chr6:146189400-146201400	Weak transcription	Dnd41	blood
16	chr6:146189400-146202800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:146189400-146214400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:146189600-146211800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:146193200-146194000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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