Variant report

Variant	rs12918452
Chromosome Location	chr16:75235434-75235435
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	chr16:75233387..75236212-chr16:75236594..75240040,3	K562	blood:

Variant related genes	Relation type
ENSG00000168928	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1019539	0.80[EUR][1000 genomes]
rs1035540	0.81[EUR][1000 genomes]
rs1107593	0.82[EUR][1000 genomes]
rs11149811	0.81[EUR][1000 genomes]
rs12924999	0.82[EUR][1000 genomes]
rs1808427	0.89[EUR][1000 genomes]
rs2870466	0.80[EUR][1000 genomes]
rs2870472	0.81[EUR][1000 genomes]
rs4737	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4887808	0.80[EUR][1000 genomes]
rs4888361	0.81[EUR][1000 genomes]
rs4888365	0.81[EUR][1000 genomes]
rs6564239	0.85[EUR][1000 genomes]
rs6564241	0.80[EUR][1000 genomes]
rs7195938	0.81[EUR][1000 genomes]
rs7202566	0.87[EUR][1000 genomes]
rs8048956	0.85[EUR][1000 genomes]
rs8050765	0.81[EUR][1000 genomes]
rs8057145	0.85[EUR][1000 genomes]
rs889515	0.85[EUR][1000 genomes]
rs9319481	0.81[EUR][1000 genomes]
rs9927264	0.81[EUR][1000 genomes]
rs9928842	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75232400-75237600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr16:75232400-75237600	Weak transcription	Pancreas	Pancrea
3	chr16:75232600-75240400	Weak transcription	HSMMtube	muscle
4	chr16:75233800-75235600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:75234400-75236000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr16:75234800-75235800	Enhancers	Fetal Thymus	thymus
7	chr16:75235000-75235600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:75235000-75235600	Enhancers	GM12878-XiMat	blood
9	chr16:75235000-75235800	Enhancers	Primary B cells from peripheral blood	blood
10	chr16:75235000-75235800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr16:75235000-75236000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr16:75235000-75236200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr16:75235000-75236400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr16:75235000-75236400	Enhancers	Thymus	Thymus
15	chr16:75235000-75236600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr16:75235000-75238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:75235200-75235600	Enhancers	Primary T cells from cord blood	blood
18	chr16:75235200-75235800	Enhancers	Primary B cells from cord blood	blood
19	chr16:75235200-75236000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:75235200-75236200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:75235200-75236200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:75235400-75235600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:75235400-75240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:75235400-75241800	Weak transcription	Fetal Muscle Leg	muscle

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