Variant report

Variant	rs62022665
Chromosome Location	chr15:49873811-49873812
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10519224	0.86[ASN][1000 genomes]
rs10519225	0.86[ASN][1000 genomes]
rs10851478	0.86[AFR][1000 genomes]
rs10851479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070695	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11634947	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11637582	0.87[ASN][1000 genomes]
rs11852336	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11853248	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11854671	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11855798	0.86[ASN][1000 genomes]
rs11858411	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050614	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12050624	0.87[ASN][1000 genomes]
rs12148716	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12148764	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12232355	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12591317	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12591659	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12593151	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12595692	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12901680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12902960	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12906134	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12906972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12907661	0.92[ASN][1000 genomes]
rs12907918	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12907944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12908624	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12908635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12912703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12916839	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1395901	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1395903	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17404727	0.83[EUR][1000 genomes]
rs17478694	0.86[ASN][1000 genomes]
rs17478785	0.86[ASN][1000 genomes]
rs17479589	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1911612	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1948975	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1976551	0.92[ASN][1000 genomes]
rs2413956	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2899434	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34002493	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34146550	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34246470	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34414487	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34694913	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34941109	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35698479	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4389093	0.86[ASN][1000 genomes]
rs4436732	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4480740	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4547278	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55904469	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62009977	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62021589	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62022667	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62022700	0.83[EUR][1000 genomes]
rs6493372	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7162741	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7172906	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174135	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7180421	0.84[EUR][1000 genomes]
rs8032688	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8033476	0.87[ASN][1000 genomes]
rs925104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569392	chr15:49789413-49926300	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1040578	chr15:49841444-49890789	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62022665	COPS2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49856200-49897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:49863400-49874800	Weak transcription	Fetal Kidney	kidney
3	chr15:49863800-49881400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:49864600-49878200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:49864800-49878600	Weak transcription	Primary B cells from cord blood	blood
6	chr15:49864800-49881600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:49865000-49875400	Weak transcription	HSMMtube	muscle
8	chr15:49865000-49880400	Weak transcription	Fetal Lung	lung
9	chr15:49865400-49881400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:49865400-49881800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:49866000-49879000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:49866400-49875200	Weak transcription	Brain Anterior Caudate	brain
13	chr15:49866800-49874800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:49866800-49877200	Weak transcription	Aorta	Aorta
15	chr15:49866800-49881200	Weak transcription	Primary T cells from cord blood	blood
16	chr15:49866800-49881600	Weak transcription	Pancreas	Pancrea
17	chr15:49866800-49897600	Weak transcription	Ovary	ovary
18	chr15:49867200-49881400	Weak transcription	Fetal Heart	heart
19	chr15:49868800-49892400	Weak transcription	Left Ventricle	heart

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