Variant report

Variant	rs12214145
Chromosome Location	chr6:81351621-81351622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10455372	0.82[ASN][1000 genomes]
rs12213889	0.82[ASN][1000 genomes]
rs12214028	0.82[ASN][1000 genomes]
rs13207200	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1454453	0.82[ASN][1000 genomes]
rs16892045	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28643369	0.87[EUR][1000 genomes]
rs34538775	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35802620	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36018197	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4380719	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56049233	0.85[EUR][1000 genomes]
rs9294177	0.93[EUR][1000 genomes]
rs9294179	0.82[ASN][1000 genomes]
rs9341821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9344028	0.84[ASN][1000 genomes]
rs9352848	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9352849	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9361632	0.91[ASN][1000 genomes]
rs9361634	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9361636	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9361637	0.84[ASN][1000 genomes]
rs9361638	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1020533	chr6:81288890-81406533	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538340	chr6:81288890-81406533	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604085	chr6:81297890-81439973	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1015520	chr6:81309213-81374699	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv886314	chr6:81341175-81379791	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3324409	chr6:81349858-81352406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv3328252	chr6:81350108-81352256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81348800-81359800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:81349000-81352600	Weak transcription	Stomach Mucosa	stomach
3	chr6:81349800-81353000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:81351400-81352200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:81351400-81352200	Enhancers	NHLF	lung
6	chr6:81351400-81353400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:81351400-81353400	Enhancers	NHDF-Ad	bronchial
8	chr6:81351600-81352000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:81351600-81352000	Flanking Active TSS	Osteobl	bone
10	chr6:81351600-81352200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:81351600-81352200	Enhancers	HSMM	muscle
12	chr6:81351600-81352800	Enhancers	Muscle Satellite Cultured Cells	--

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