Variant report

Variant	rs56133346
Chromosome Location	chr8:104259630-104259631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104257644..104259924-chr8:104260280..104262790,2	MCF-7	breast:
2	chr8:104258179..104261076-chr8:104267475..104269519,2	MCF-7	breast:
3	chr8:104259482..104261935-chr8:104276348..104278558,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11554072	0.84[EUR][1000 genomes]
rs55713894	0.88[EUR][1000 genomes]
rs6992681	0.82[EUR][1000 genomes]
rs7017690	0.82[EUR][1000 genomes]
rs72673325	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72673327	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72673333	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72673338	0.81[EUR][1000 genomes]
rs72673342	0.81[EUR][1000 genomes]
rs72673345	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:104248400-104259800	Weak transcription	NHLF	lung
3	chr8:104251800-104260000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:104252000-104261000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:104252200-104260800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
7	chr8:104255400-104261000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:104255800-104260000	Weak transcription	Spleen	Spleen
9	chr8:104256200-104268600	Weak transcription	Left Ventricle	heart
10	chr8:104256600-104266600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:104257000-104263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:104257800-104261400	Weak transcription	NH-A	brain
13	chr8:104257800-104263600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:104258400-104263600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:104258600-104260000	Enhancers	HUVEC	blood vessel
16	chr8:104259000-104267400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:104259400-104259800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:104259400-104261000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:104259400-104261000	Weak transcription	NHDF-Ad	bronchial
20	chr8:104259600-104259800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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