Variant report

Variant	rs12447930
Chromosome Location	chr16:31023273-31023274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31010991..31014838-chr16:31020635..31023865,5	MCF-7	breast:
2	chr16:31021441..31023477-chr16:31083604..31085649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167394	Chromatin interaction
ENSG00000099365	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs11076	0.81[EUR][1000 genomes]
rs11150601	0.86[EUR][1000 genomes]
rs11862744	0.80[EUR][1000 genomes]
rs12445568	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12445650	0.82[EUR][1000 genomes]
rs12716978	0.83[EUR][1000 genomes]
rs12920772	0.85[EUR][1000 genomes]
rs12931046	0.84[EUR][1000 genomes]
rs13708	0.87[EUR][1000 genomes]
rs17839567	0.80[EUR][1000 genomes]
rs1870293	0.80[EUR][1000 genomes]
rs2054213	0.84[EUR][1000 genomes]
rs2199036	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2305880	0.87[EUR][1000 genomes]
rs2305884	0.83[EUR][1000 genomes]
rs28360557	0.86[EUR][1000 genomes]
rs34454770	0.94[ASN][1000 genomes]
rs35468353	0.80[EUR][1000 genomes]
rs4502227	0.80[EUR][1000 genomes]
rs4889525	0.86[EUR][1000 genomes]
rs4889599	0.83[EUR][1000 genomes]
rs4889604	0.84[EUR][1000 genomes]
rs4889609	0.81[EUR][1000 genomes]
rs56284083	0.80[EUR][1000 genomes]
rs58726213	0.82[EUR][1000 genomes]
rs61239537	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62055866	0.82[EUR][1000 genomes]
rs6950	0.86[EUR][1000 genomes]
rs7184567	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7203999	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7204459	0.84[EUR][1000 genomes]
rs72800847	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729482	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8050588	0.80[EUR][1000 genomes]
rs8060857	0.87[EUR][1000 genomes]
rs8062719	0.85[EUR][1000 genomes]
rs897986	0.86[EUR][1000 genomes]
rs9938550	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	esv3410149	chr16:31020876-31023424	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
15	esv3407754	chr16:31020976-31023274	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12447930	STX4	Cis_1M	lymphoblastoid	RTeQTL
rs12447930	HSD3B7	cis	Muscle Skeletal	GTEx
rs12447930	HSD3B7	cis	Esophagus Mucosa	GTEx
rs12447930	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs12447930	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs12447930	RP11-196G11.2	cis	lung	GTEx
rs12447930	RP11-196G11.2	cis	Esophagus Muscularis	GTEx
rs12447930	MYST1	Cis_1M	lymphoblastoid	RTeQTL
rs12447930	KAT8	cis	Artery Tibial	GTEx
rs12447930	STX1B	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
2	chr16:31018000-31027400	Weak transcription	A549	lung
3	chr16:31022600-31027200	Weak transcription	Pancreas	Pancrea

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