Variant report

Variant	rs4767830
Chromosome Location	chr12:120035224-120035225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10744740	0.85[ASN][1000 genomes]
rs10744741	0.82[ASN][1000 genomes]
rs10744742	0.82[ASN][1000 genomes]
rs10774504	0.98[ASN][1000 genomes]
rs10774505	0.85[ASN][1000 genomes]
rs10849673	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10849674	0.97[ASN][1000 genomes]
rs10849679	0.84[ASN][1000 genomes]
rs10849682	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10849683	0.81[ASN][1000 genomes]
rs11064842	0.80[ASN][1000 genomes]
rs11064843	0.83[ASN][1000 genomes]
rs11064855	0.82[ASN][1000 genomes]
rs1109856	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12422340	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12425356	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12425649	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12425680	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12579854	0.96[ASN][1000 genomes]
rs12582735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12708371	0.82[ASN][1000 genomes]
rs12825063	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12825555	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12827937	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1303904	0.82[ASN][1000 genomes]
rs1476453	0.85[ASN][1000 genomes]
rs1544329	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16949411	0.80[EUR][1000 genomes]
rs2015795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157806	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2893796	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3847956	0.84[ASN][1000 genomes]
rs4767829	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4767831	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767832	0.85[ASN][1000 genomes]
rs4767833	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7295362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7306273	0.85[ASN][1000 genomes]
rs7310741	0.83[ASN][1000 genomes]
rs739423	0.85[ASN][1000 genomes]
rs7954674	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7955433	0.95[ASN][1000 genomes]
rs7957284	0.82[ASN][1000 genomes]
rs7965791	0.82[ASN][1000 genomes]
rs7978341	0.82[ASN][1000 genomes]
rs7981024	0.82[ASN][1000 genomes]
rs9634163	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9634174	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.83[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	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4767830	TMEM233	cis	Thyroid	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120034600-120048200	Weak transcription	HSMMtube	muscle
2	chr12:120034800-120035600	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
3	chr12:120034800-120035600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:120035000-120035800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:120035000-120036600	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr12:120035200-120036600	Strong transcription	HSMM	muscle

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