Variant report

Variant	rs61162043
Chromosome Location	chr16:31114234-31114235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a

Variant related genes	Relation type
BCKDK	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1060506	0.95[ASN][1000 genomes]
rs10871454	0.85[ASN][1000 genomes]
rs1108431	0.89[ASN][1000 genomes]
rs11150604	0.89[ASN][1000 genomes]
rs11640767	0.86[ASN][1000 genomes]
rs11640957	0.86[ASN][1000 genomes]
rs11642003	0.82[ASN][1000 genomes]
rs11642192	0.98[ASN][1000 genomes]
rs11647284	1.00[ASN][1000 genomes]
rs11647442	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11862744	0.89[ASN][1000 genomes]
rs11864806	1.00[ASN][1000 genomes]
rs11864839	1.00[ASN][1000 genomes]
rs11865038	1.00[ASN][1000 genomes]
rs11865499	0.95[ASN][1000 genomes]
rs12445650	0.89[ASN][1000 genomes]
rs12448321	0.89[ASN][1000 genomes]
rs12597511	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12716981	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12716982	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12934418	0.89[ASN][1000 genomes]
rs14235	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1549293	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17839567	0.89[ASN][1000 genomes]
rs17839568	1.00[ASN][1000 genomes]
rs1978485	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978487	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2032915	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2288004	0.89[ASN][1000 genomes]
rs2303222	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303223	0.98[ASN][1000 genomes]
rs2359612	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855475	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28725459	0.91[ASN][1000 genomes]
rs28814987	1.00[ASN][1000 genomes]
rs2884738	0.95[ASN][1000 genomes]
rs34649473	0.85[ASN][1000 genomes]
rs35351013	0.93[ASN][1000 genomes]
rs35468353	0.89[ASN][1000 genomes]
rs35713203	1.00[ASN][1000 genomes]
rs3751855	1.00[ASN][1000 genomes]
rs4468641	1.00[ASN][1000 genomes]
rs4527034	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889530	0.87[ASN][1000 genomes]
rs4889619	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4889620	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55766044	0.95[ASN][1000 genomes]
rs55979739	0.89[ASN][1000 genomes]
rs56284083	0.89[ASN][1000 genomes]
rs56314408	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56813533	0.93[ASN][1000 genomes]
rs57434408	0.91[ASN][1000 genomes]
rs58726213	0.87[ASN][1000 genomes]
rs59061704	0.86[ASN][1000 genomes]
rs59735493	0.95[ASN][1000 genomes]
rs60996860	0.91[ASN][1000 genomes]
rs61320757	0.95[ASN][1000 genomes]
rs6565217	1.00[ASN][1000 genomes]
rs7187995	0.93[ASN][1000 genomes]
rs7196161	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7196726	1.00[ASN][1000 genomes]
rs7197717	1.00[ASN][1000 genomes]
rs7199949	1.00[ASN][1000 genomes]
rs7294	1.00[ASN][1000 genomes]
rs732172	0.89[ASN][1000 genomes]
rs732173	0.89[ASN][1000 genomes]
rs73530203	0.98[ASN][1000 genomes]
rs749670	1.00[ASN][1000 genomes]
rs749671	1.00[ASN][1000 genomes]
rs749767	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7500176	0.89[ASN][1000 genomes]
rs750952	1.00[ASN][1000 genomes]
rs8047803	1.00[ASN][1000 genomes]
rs8050894	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056842	0.89[ASN][1000 genomes]
rs8061047	0.93[ASN][1000 genomes]
rs881929	1.00[ASN][1000 genomes]
rs889548	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs889555	0.95[ASN][1000 genomes]
rs9923231	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925964	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9929899	0.86[ASN][1000 genomes]
rs9934438	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936329	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939417	0.89[ASN][1000 genomes]
rs9939558	0.89[ASN][1000 genomes]
rs9972727	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61162043	HSD3B7	cis	Whole Blood	GTEx
rs61162043	KAT8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31106800-31117200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:31107400-31117200	Weak transcription	NHLF	lung
3	chr16:31111800-31117200	Weak transcription	NH-A	brain
4	chr16:31112000-31117000	Weak transcription	HMEC	breast
5	chr16:31112400-31117200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:31112600-31117200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr16:31112600-31117200	Weak transcription	Osteobl	bone
8	chr16:31112800-31116800	Weak transcription	K562	blood
9	chr16:31112800-31119200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:31113000-31119400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:31113600-31117200	Weak transcription	HepG2	liver

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