Variant report

Variant	rs73606267
Chromosome Location	chr19:55955675-55955676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr19:55955172-55955697	K562	blood:	n/a	n/a
2	GATA1	chr19:55955169-55955678	K562	blood:	n/a	chr19:55955185-55955192
3	SUZ12	chr19:55952383-55955792	NT2-D1	testis:	n/a	n/a
4	GATA1	chr19:55954860-55956001	PBDE	blood:	n/a	chr19:55955185-55955192
5	POLR2A	chr19:55954881-55955706	PBDE	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:55954516..55956237-chr19:55997093..55998722,2	K562	blood:
2	chr19:55954834..55957911-chr19:55959708..55962559,3	K562	blood:
3	chr19:55917609..55921205-chr19:55953986..55957164,3	MCF-7	breast:
4	chr19:55953960..55955842-chr19:55970927..55973653,2	MCF-7	breast:
5	chr19:55896562..55898629-chr19:55953119..55955892,2	MCF-7	breast:
6	chr19:55917160..55921382-chr19:55952217..55958073,12	K562	blood:
7	chr19:55954944..55957825-chr19:55969306..55971462,2	K562	blood:
8	chr19:55955261..55957047-chr19:55971752..55973934,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
SHISA7	TF binding region
ENSG00000090971	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000108107	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10412033	0.88[EUR][1000 genomes]
rs7247719	0.88[AMR][1000 genomes]
rs73606265	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55953400-55956400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:55954200-55962800	Weak transcription	Right Atrium	heart
3	chr19:55954400-55957600	Weak transcription	Pancreas	Pancrea
4	chr19:55955000-55955800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr19:55955000-55955800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:55955000-55956400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:55955000-55956400	Bivalent Enhancer	Brain Hippocampus Middle	brain
8	chr19:55955000-55956600	Enhancers	Brain Cingulate Gyrus	brain
9	chr19:55955200-55956000	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr19:55955200-55956000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr19:55955400-55956000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:55955400-55956600	Enhancers	K562	blood
13	chr19:55955400-55958400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:55955400-55958600	Weak transcription	Brain Substantia Nigra	brain
15	chr19:55955600-55955800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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