Variant report

Variant	rs12934434
Chromosome Location	chr16:80293292-80293293
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	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11150251	1.00[AMR][1000 genomes]
rs13330289	1.00[AMR][1000 genomes]
rs13330955	1.00[AMR][1000 genomes]
rs13331960	1.00[AMR][1000 genomes]
rs13339027	1.00[AMR][1000 genomes]
rs16953014	1.00[AMR][1000 genomes]
rs16953037	1.00[AMR][1000 genomes]
rs16953078	1.00[AMR][1000 genomes]
rs2086809	1.00[AMR][1000 genomes]
rs28630847	1.00[AMR][1000 genomes]
rs28829271	1.00[AMR][1000 genomes]
rs56005098	1.00[AMR][1000 genomes]
rs56130301	1.00[AMR][1000 genomes]
rs57172347	1.00[AMR][1000 genomes]
rs57630839	1.00[AMR][1000 genomes]
rs57740447	1.00[AMR][1000 genomes]
rs58089953	1.00[AMR][1000 genomes]
rs58986982	1.00[AMR][1000 genomes]
rs60777660	1.00[AMR][1000 genomes]
rs60957378	1.00[AMR][1000 genomes]
rs6564746	1.00[AMR][1000 genomes]
rs6564747	1.00[AMR][1000 genomes]
rs7204613	1.00[AMR][1000 genomes]
rs73573837	1.00[AMR][1000 genomes]
rs73573839	1.00[AMR][1000 genomes]
rs73573843	1.00[AMR][1000 genomes]
rs73573879	1.00[AMR][1000 genomes]
rs73577643	1.00[AMR][1000 genomes]
rs73579646	1.00[AMR][1000 genomes]
rs73579647	1.00[AMR][1000 genomes]
rs73579651	1.00[AMR][1000 genomes]
rs73579655	1.00[AMR][1000 genomes]
rs73581439	1.00[AMR][1000 genomes]
rs73581483	1.00[AMR][1000 genomes]
rs73581486	1.00[AMR][1000 genomes]
rs74028280	1.00[AMR][1000 genomes]
rs74028409	1.00[AMR][1000 genomes]
rs74028410	1.00[AMR][1000 genomes]
rs74028463	1.00[AMR][1000 genomes]
rs74029608	1.00[AMR][1000 genomes]
rs74029609	1.00[AMR][1000 genomes]
rs74030061	1.00[AMR][1000 genomes]
rs8047720	1.00[AMR][1000 genomes]
rs8049405	1.00[AMR][1000 genomes]
rs8061220	1.00[AMR][1000 genomes]
rs9889095	1.00[AMR][1000 genomes]
rs9921104	1.00[AMR][1000 genomes]
rs9922244	1.00[AMR][1000 genomes]
rs9922479	1.00[AMR][1000 genomes]
rs9925651	1.00[AMR][1000 genomes]
rs9926298	1.00[AMR][1000 genomes]
rs9927166	1.00[AMR][1000 genomes]
rs9927513	1.00[AMR][1000 genomes]
rs9928544	1.00[AMR][1000 genomes]
rs9931668	1.00[AMR][1000 genomes]
rs9934444	1.00[AMR][1000 genomes]
rs9938466	1.00[AMR][1000 genomes]
rs9938741	1.00[AMR][1000 genomes]
rs9938944	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055228	chr16:80207546-80378842	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1061068	chr16:80207546-80537052	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1064093	chr16:80208443-80333301	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv542985	chr16:80208443-80333301	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1063466	chr16:80227628-80360463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv906996	chr16:80230224-80334010	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv573295	chr16:80251265-80341115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv949197	chr16:80284557-80456403	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1064628	chr16:80286004-80406177	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv542986	chr16:80286004-80406177	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80292400-80294400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr16:80292800-80293800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:80292800-80294600	Weak transcription	Fetal Intestine Large	intestine
4	chr16:80293000-80294200	Weak transcription	Fetal Intestine Small	intestine
5	chr16:80293000-80294400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:80293000-80296600	Weak transcription	Stomach Mucosa	stomach
7	chr16:80293000-80298800	Enhancers	HepG2	liver
8	chr16:80293200-80293600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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