Variant report

Variant	rs6970109
Chromosome Location	chr7:80138074-80138075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10216027	0.96[EUR][1000 genomes]
rs10229347	0.90[ASN][1000 genomes]
rs10242727	0.94[ASN][1000 genomes]
rs10246832	0.94[ASN][1000 genomes]
rs10269301	1.00[EUR][1000 genomes]
rs10269846	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10270318	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10273230	1.00[EUR][1000 genomes]
rs10276559	1.00[EUR][1000 genomes]
rs10279893	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10280109	0.96[EUR][1000 genomes]
rs10280807	0.93[ASN][1000 genomes]
rs12535970	0.92[EUR][1000 genomes]
rs12536759	0.96[EUR][1000 genomes]
rs12666211	0.93[ASN][1000 genomes]
rs1404314	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1404315	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1524600	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34193549	0.83[EUR][1000 genomes]
rs59419187	0.93[EUR][1000 genomes]
rs6467192	0.90[ASN][1000 genomes]
rs6467212	0.93[EUR][1000 genomes]
rs6467217	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961082	0.84[ASN][1000 genomes]
rs6975345	0.97[ASN][1000 genomes]
rs6979450	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73369038	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73369078	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73709182	0.95[EUR][1000 genomes]
rs7776757	0.94[ASN][1000 genomes]
rs7777640	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7779247	0.89[ASN][1000 genomes]
rs7780776	0.90[ASN][1000 genomes]
rs7786144	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800673	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802311	0.94[ASN][1000 genomes]
rs7804604	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7808426	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv464604	chr7:80121347-80142217	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv607681	chr7:80121347-80142217	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1801415	chr7:80130554-80149152	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6970109	GNAT3	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80129200-80147800	Weak transcription	Left Ventricle	heart
2	chr7:80136600-80138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:80137000-80138200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:80137200-80138200	Enhancers	HUVEC	blood vessel
5	chr7:80137200-80138600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:80137400-80138200	Enhancers	NHLF	lung
7	chr7:80137600-80138200	Enhancers	Hela-S3	cervix
8	chr7:80138000-80138400	Enhancers	Ovary	ovary

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