Variant report

Variant	rs59927470
Chromosome Location	chr6:53493112-53493113
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr6:53493016-53493192	K562	blood:	n/a	n/a
2	KAP1	chr6:53492205-53493808	HEK293	kidney:	n/a	n/a
3	POLR2A	chr6:53492313-53494028	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:53492772-53493816	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000235899	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58268734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59615782	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948191	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53492000-53493200	Enhancers	Liver	Liver
2	chr6:53492000-53493800	Enhancers	A549	lung
3	chr6:53492000-53496000	Enhancers	HepG2	liver
4	chr6:53492200-53494000	Enhancers	Fetal Lung	lung
5	chr6:53492400-53493200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:53492400-53493600	Enhancers	Esophagus	oesophagus
7	chr6:53492400-53493800	Flanking Active TSS	HMEC	breast
8	chr6:53492400-53494000	Flanking Active TSS	NHEK	skin
9	chr6:53492600-53493400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
10	chr6:53492600-53493600	Enhancers	Brain Hippocampus Middle	brain
11	chr6:53492600-53494000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:53492800-53493200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:53492800-53493400	Enhancers	Stomach Mucosa	stomach
14	chr6:53492800-53493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:53492800-53495400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:53493000-53493200	Enhancers	Brain Substantia Nigra	brain
17	chr6:53493000-53493200	Enhancers	Colon Smooth Muscle	Colon
18	chr6:53493000-53493200	Enhancers	Rectal Smooth Muscle	rectum
19	chr6:53493000-53493400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr6:53493000-53493400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:53493000-53493400	Active TSS	Aorta	Aorta
22	chr6:53493000-53493600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:53493000-53493600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:53493000-53493600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:53493000-53494000	Enhancers	Brain Anterior Caudate	brain
26	chr6:53493000-53494000	Active TSS	Stomach Smooth Muscle	stomach
27	chr6:53493000-53494000	Flanking Active TSS	Osteobl	bone
28	chr6:53493000-53495800	Enhancers	Fetal Intestine Large	intestine

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