Variant report

Variant	rs2050135
Chromosome Location	chr6:140667829-140667830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10872525	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11155107	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1119397	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs1121833	0.95[ASN][1000 genomes]
rs12055615	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12174980	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12660474	0.92[ASN][1000 genomes]
rs12660560	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs12661752	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12662046	0.92[ASN][1000 genomes]
rs12662151	0.83[ASN][1000 genomes]
rs12662848	0.96[ASN][1000 genomes]
rs12663424	0.96[ASN][1000 genomes]
rs12663444	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12663480	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs12665797	0.92[ASN][1000 genomes]
rs13191189	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs13192756	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13194271	0.96[ASN][1000 genomes]
rs13204703	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13207048	0.90[ASN][1000 genomes]
rs13208097	0.96[ASN][1000 genomes]
rs13213875	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13214458	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1496110	0.92[ASN][1000 genomes]
rs1496112	0.90[ASN][1000 genomes]
rs1496113	0.89[ASN][1000 genomes]
rs1519592	0.90[ASN][1000 genomes]
rs1587171	0.89[ASN][1000 genomes]
rs1603348	0.89[ASN][1000 genomes]
rs1603349	0.89[ASN][1000 genomes]
rs17053906	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17069852	0.89[ASN][1000 genomes]
rs17069854	0.89[ASN][1000 genomes]
rs17192	0.95[ASN][1000 genomes]
rs1856752	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2020197	0.84[ASN][1000 genomes]
rs2103669	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328062	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34358600	0.85[ASN][1000 genomes]
rs34753441	0.89[ASN][1000 genomes]
rs34858573	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34984534	0.89[ASN][1000 genomes]
rs35465283	0.89[ASN][1000 genomes]
rs35626395	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35686278	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs36074095	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4323321	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4391280	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4562159	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4637665	0.90[ASN][1000 genomes]
rs477498	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4896508	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4896509	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520322	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533610	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57291519	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62431097	0.85[ASN][1000 genomes]
rs62431100	0.84[ASN][1000 genomes]
rs62431101	0.86[ASN][1000 genomes]
rs66460448	0.84[ASN][1000 genomes]
rs71562538	0.87[ASN][1000 genomes]
rs7758187	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7761894	0.85[ASN][1000 genomes]
rs9321765	0.92[ASN][1000 genomes]
rs9321769	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373258	0.85[ASN][1000 genomes]
rs9373259	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[TSI][hapmap];0.86[ASN][1000 genomes]
rs9373260	0.89[ASN][1000 genomes]
rs9373261	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs9373262	0.90[ASN][1000 genomes]
rs9373266	0.92[ASN][1000 genomes]
rs9373267	0.90[ASN][1000 genomes]
rs9373269	0.95[ASN][1000 genomes]
rs9373270	0.95[ASN][1000 genomes]
rs9373272	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373273	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373276	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9373278	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9376497	0.85[ASN][1000 genomes]
rs9376498	0.85[ASN][1000 genomes]
rs9376500	0.82[ASN][1000 genomes]
rs9376502	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9376503	0.88[ASN][1000 genomes]
rs9376504	0.89[ASN][1000 genomes]
rs9376506	0.92[ASN][1000 genomes]
rs9376511	0.95[ASN][1000 genomes]
rs9376512	0.95[ASN][1000 genomes]
rs9376518	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385899	0.84[ASN][1000 genomes]
rs9385900	0.85[ASN][1000 genomes]
rs9385901	0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs9385902	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs9385903	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9385906	0.90[ASN][1000 genomes]
rs9385908	0.96[ASN][1000 genomes]
rs9389749	0.85[ASN][1000 genomes]
rs9389750	0.85[ASN][1000 genomes]
rs9389751	0.86[ASN][1000 genomes]
rs9389753	0.89[ASN][1000 genomes]
rs9389754	0.89[ASN][1000 genomes]
rs9389755	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9389757	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9389760	0.89[ASN][1000 genomes]
rs9389763	0.88[ASN][1000 genomes]
rs9389767	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs9389768	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs9389772	0.92[ASN][1000 genomes]
rs9389773	0.91[ASN][1000 genomes]
rs9389774	0.88[ASN][1000 genomes]
rs9389775	0.82[ASN][1000 genomes]
rs9389776	0.89[ASN][1000 genomes]
rs9389777	0.90[ASN][1000 genomes]
rs9389780	0.92[ASN][1000 genomes]
rs9389781	0.92[ASN][1000 genomes]
rs9389782	0.91[ASN][1000 genomes]
rs9389783	0.92[ASN][1000 genomes]
rs9389784	0.95[ASN][1000 genomes]
rs9389785	0.95[ASN][1000 genomes]
rs9389789	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9389793	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389794	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399308	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.85[ASN][1000 genomes]
rs9399310	0.90[ASN][1000 genomes]
rs9399315	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9399316	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403148	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs9403149	0.83[ASN][1000 genomes]
rs9403150	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9403151	0.89[ASN][1000 genomes]
rs9403153	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9403155	0.89[ASN][1000 genomes]
rs9403156	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs9403157	0.89[ASN][1000 genomes]
rs9403159	0.90[ASN][1000 genomes]
rs9403165	0.88[ASN][1000 genomes]
rs9403168	0.91[ASN][1000 genomes]
rs9403170	0.92[ASN][1000 genomes]
rs9403171	0.95[ASN][1000 genomes]
rs9403173	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9403174	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9403176	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9403177	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9484347	0.86[ASN][1000 genomes]
rs9791338	0.90[ASN][1000 genomes]
rs997388	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015293	chr6:140544956-140798437	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv817390	chr6:140558103-141166039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2050135	C6orf115	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140660000-140670400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:140664400-140669400	Enhancers	HUVEC	blood vessel
3	chr6:140665000-140668000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:140665200-140668600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:140665200-140669000	Enhancers	NHLF	lung
6	chr6:140665400-140668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:140665400-140668400	Enhancers	HSMM	muscle
8	chr6:140665600-140668800	Enhancers	HSMMtube	muscle
9	chr6:140666200-140668200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:140666400-140668000	Enhancers	Fetal Kidney	kidney
11	chr6:140666600-140668200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:140667200-140668000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:140667200-140668000	Enhancers	Fetal Brain Male	brain
14	chr6:140667200-140668200	Enhancers	Fetal Lung	lung
15	chr6:140667400-140668000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:140667400-140669000	Enhancers	Hela-S3	cervix
17	chr6:140667600-140668000	Enhancers	NH-A	brain
18	chr6:140667600-140668200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:140667600-140668200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:140667600-140669000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:140667800-140668000	Enhancers	Fetal Heart	heart
22	chr6:140667800-140668000	Flanking Active TSS	Ovary	ovary
23	chr6:140667800-140668000	Enhancers	Osteobl	bone
24	chr6:140667800-140668400	Enhancers	Colon Smooth Muscle	Colon

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