Variant report

Variant	rs62389889
Chromosome Location	chr6:12849622-12849623
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13191496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13198167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13205779	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13215145	0.86[AFR][1000 genomes]
rs13215271	0.82[AFR][1000 genomes]
rs13215300	0.82[AFR][1000 genomes]
rs16873462	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34348949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35227817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35395772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35621699	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35784087	0.82[AFR][1000 genomes]
rs35954478	1.00[EUR][1000 genomes]
rs36043593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55637633	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803153	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389221	0.82[AFR][1000 genomes]
rs62389892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62389900	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6900427	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6912532	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6914233	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6914467	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6924353	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6927781	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12845600-12851000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:12846400-12851000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:12848800-12849800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:12848800-12849800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:12848800-12850000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:12848800-12851800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:12848800-12852000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:12849200-12849800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:12849200-12849800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:12849200-12849800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:12849200-12851600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:12849200-12851800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:12849200-12852000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:12849200-12852000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:12849400-12849800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:12849400-12851000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:12849400-12852000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:12849600-12849800	Enhancers	Brain Anterior Caudate	brain
19	chr6:12849600-12850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:12849600-12850600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:12849600-12850600	Enhancers	NH-A	brain
22	chr6:12849600-12851600	Enhancers	HSMM	muscle

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