Variant report

Variant	rs12212008
Chromosome Location	chr6:80424012-80424013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12210764	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12660740	0.81[EUR][1000 genomes]
rs2207369	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4467741	0.81[EUR][1000 genomes]
rs4706101	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55671169	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59337495	0.81[EUR][1000 genomes]
rs6900699	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921089	0.81[EUR][1000 genomes]
rs6925255	0.92[EUR][1000 genomes]
rs6941826	0.81[EUR][1000 genomes]
rs6942089	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs714702	0.80[EUR][1000 genomes]
rs714703	0.81[EUR][1000 genomes]
rs714704	0.80[EUR][1000 genomes]
rs761605	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7768071	0.91[EUR][1000 genomes]
rs9443716	0.81[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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80420200-80424600	Weak transcription	Esophagus	oesophagus
2	chr6:80420200-80424800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:80422600-80428600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:80423800-80424600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:80423800-80424800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:80423800-80425000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:80424000-80424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:80424000-80424200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:80424000-80424200	Enhancers	Brain Cingulate Gyrus	brain
10	chr6:80424000-80424600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:80424000-80424600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:80424000-80424800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:80424000-80424800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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