Variant report

Variant	rs62430313
Chromosome Location	chr6:133612355-133612356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10457600	1.00[AFR][1000 genomes]
rs12173440	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12175835	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12191026	1.00[AFR][1000 genomes]
rs12192839	0.86[AMR][1000 genomes]
rs12196069	1.00[AFR][1000 genomes]
rs12196492	1.00[AFR][1000 genomes]
rs12199138	1.00[AFR][1000 genomes]
rs12200393	1.00[AFR][1000 genomes]
rs12210216	1.00[AFR][1000 genomes]
rs12211999	1.00[AFR][1000 genomes]
rs12213452	1.00[AFR][1000 genomes]
rs1336520	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17301249	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405267	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777796	0.86[AMR][1000 genomes]
rs4278037	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5025271	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55947866	0.86[AMR][1000 genomes]
rs56377439	0.86[AMR][1000 genomes]
rs62428563	1.00[AFR][1000 genomes]
rs62428596	1.00[AFR][1000 genomes]
rs62428597	1.00[AFR][1000 genomes]
rs62428664	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62428665	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62428666	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62428668	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62428724	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62428725	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62428726	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62430275	0.84[AMR][1000 genomes]
rs62430315	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62430317	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62430318	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62430319	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62431677	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62431680	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62431681	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6919155	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7746390	1.00[AFR][1000 genomes]
rs9373043	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373044	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373045	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373046	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373047	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9373048	0.87[ASN][1000 genomes]
rs9375949	0.86[AMR][1000 genomes]
rs9375955	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9385640	0.86[AMR][1000 genomes]
rs9385641	0.86[AMR][1000 genomes]
rs9389059	0.86[AMR][1000 genomes]
rs9389064	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9389066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9399055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9399057	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9399058	0.87[ASN][1000 genomes]
rs9402494	0.86[AMR][1000 genomes]
rs9402501	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9402502	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886679	chr6:133578733-133635272	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133594200-133612800	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:133594200-133614000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:133594200-133617200	Weak transcription	Left Ventricle	heart
4	chr6:133599000-133629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:133599800-133612400	Weak transcription	A549	lung
6	chr6:133605600-133614000	Weak transcription	Psoas Muscle	Psoas
7	chr6:133610200-133612800	Weak transcription	Osteobl	bone
8	chr6:133610400-133613000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:133610600-133613000	Enhancers	Hela-S3	cervix
10	chr6:133610800-133613600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:133611600-133613800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:133611600-133614400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:133612000-133612800	Weak transcription	Ovary	ovary
14	chr6:133612000-133612800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:133612000-133613800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:133612200-133613400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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