Variant report

Variant	rs573766556
Chromosome Location	chr18:12768837-12768838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12749017..12751850-chr18:12765678..12769408,3	K562	blood:
2	chr18:12768832..12771673-chr18:12882650..12885153,2	MCF-7	breast:
3	chr18:12320304..12322638-chr18:12766672..12769392,2	K562	blood:
4	chr18:12762024..12765968-chr18:12768168..12770948,4	K562	blood:
5	chr18:12767228..12769677-chr18:12772403..12775378,2	K562	blood:

Variant related genes	Relation type
ENSG00000267654	Chromatin interaction
ENSG00000266961	Chromatin interaction
ENSG00000175354	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
8	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
9	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
10	esv3424758	chr18:12768452-12772350	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12750800-12774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr18:12762000-12774800	Weak transcription	Primary T cells from cord blood	blood
3	chr18:12767000-12776400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12767400-12769200	Genic enhancers	Fetal Thymus	thymus
5	chr18:12767400-12773400	Weak transcription	Thymus	Thymus
6	chr18:12767400-12815800	Weak transcription	Gastric	stomach
7	chr18:12768000-12773800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr18:12768200-12769200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:12768600-12769200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:12768600-12769200	Enhancers	NHDF-Ad	bronchial
11	chr18:12768600-12770400	Enhancers	Osteobl	bone
12	chr18:12768600-12770600	Enhancers	HepG2	liver
13	chr18:12768600-12770600	Enhancers	HSMM	muscle
14	chr18:12768800-12769000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:12768800-12769200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:12768800-12769200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:12768800-12769400	Enhancers	HSMMtube	muscle
18	chr18:12768800-12770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:12768800-12770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:12768800-12774200	Transcr. at gene 5' and 3'	Dnd41	blood

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