Variant report

Variant	rs28718547
Chromosome Location	chr17:63196359-63196360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:62958227..62960319-chr17:63194695..63197501,2	MCF-7	breast:
2	chr17:63051528..63055347-chr17:63193534..63196537,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28376193	0.91[AFR][1000 genomes]
rs28669831	1.00[AFR][1000 genomes]
rs59911976	1.00[AFR][1000 genomes]
rs9907340	1.00[AFR][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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63181200-63197400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr17:63184800-63197600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:63188600-63197200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:63189000-63198000	Weak transcription	HUVEC	blood vessel
7	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:63190000-63199400	Weak transcription	Right Atrium	heart
9	chr17:63190400-63198000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:63190400-63198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:63191200-63198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:63193200-63199000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:63193800-63203200	Weak transcription	Fetal Stomach	stomach
14	chr17:63193800-63209800	Weak transcription	Dnd41	blood
15	chr17:63194000-63198200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:63195000-63198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr17:63195000-63198800	Weak transcription	Brain Anterior Caudate	brain
18	chr17:63195000-63203200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:63195000-63205000	Weak transcription	Brain Substantia Nigra	brain
20	chr17:63195000-63205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:63195000-63212400	Weak transcription	Pancreas	Pancrea
22	chr17:63195200-63209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:63196200-63198000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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