Variant report

Variant	rs16939788
Chromosome Location	chr18:12744692-12744693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12744227..12744814-chr18:12934130..12935168,6	K562	blood:
2	chr18:12743547..12744839-chr18:12934192..12935152,4	MCF-7	breast:
3	chr18:12743947..12744773-chr18:12893871..12894501,3	MCF-7	breast:
4	chr18:12743899..12744821-chr18:12934195..12935067,5	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10460003	0.95[ASN][1000 genomes]
rs11874945	0.87[ASN][1000 genomes]
rs12960892	0.87[ASN][1000 genomes]
rs12966224	0.84[ASN][1000 genomes]
rs12971226	0.87[ASN][1000 genomes]
rs34141130	0.89[ASN][1000 genomes]
rs34465486	0.87[ASN][1000 genomes]
rs57460226	0.87[ASN][1000 genomes]
rs71353224	0.87[ASN][1000 genomes]
rs71353225	0.87[ASN][1000 genomes]
rs7226608	0.97[ASN][1000 genomes]
rs7229751	0.89[ASN][1000 genomes]
rs7231683	0.86[ASN][1000 genomes]
rs7235964	0.87[ASN][1000 genomes]
rs7243762	0.86[ASN][1000 genomes]
rs755390	0.85[ASN][1000 genomes]
rs9948472	0.86[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs9960807	0.84[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv909405	chr18:12727224-12750499	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv909406	chr18:12727224-12761498	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1062149	chr18:12728115-12783898	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12723000-12748400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:12727000-12745800	Weak transcription	Thymus	Thymus
3	chr18:12740400-12744800	Enhancers	NHEK	skin
4	chr18:12740800-12746200	Enhancers	NHDF-Ad	bronchial
5	chr18:12741200-12749000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12741400-12745600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:12741400-12748000	Weak transcription	HSMM	muscle
8	chr18:12741800-12745600	Weak transcription	K562	blood
9	chr18:12742200-12745800	Weak transcription	HepG2	liver
10	chr18:12742600-12748000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:12743000-12748200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:12743200-12748000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr18:12743200-12748000	Weak transcription	Osteobl	bone
14	chr18:12743200-12750200	Weak transcription	A549	lung
15	chr18:12743400-12745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:12743800-12750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:12744000-12745200	Enhancers	Fetal Thymus	thymus
18	chr18:12744000-12749000	Weak transcription	Hela-S3	cervix
19	chr18:12744600-12745200	Weak transcription	Dnd41	blood
20	chr18:12744600-12745400	Enhancers	Fetal Brain Male	brain
21	chr18:12744600-12748000	Weak transcription	NHLF	lung
22	chr18:12744600-12748200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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