Variant report

Variant	rs9893450
Chromosome Location	chr17:63198233-63198234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:63051744..63054129-chr17:63197965..63199745,2	MCF-7	breast:
2	chr17:63117935..63120127-chr17:63196537..63198308,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16960906	1.00[AMR][1000 genomes]
rs28377264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55665533	1.00[AMR][1000 genomes]
rs56219537	1.00[AMR][1000 genomes]
rs58535033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58981948	1.00[AMR][1000 genomes]
rs59428744	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59447194	0.89[AMR][1000 genomes]
rs73347619	0.89[AMR][1000 genomes]
rs73347653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73347670	1.00[AMR][1000 genomes]
rs73994744	1.00[AMR][1000 genomes]
rs9915881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916501	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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63176400-63223800	Weak transcription	Lung	lung
2	chr17:63181800-63209600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:63189200-63200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr17:63190000-63199400	Weak transcription	Right Atrium	heart
5	chr17:63191200-63198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:63193200-63199000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:63193800-63203200	Weak transcription	Fetal Stomach	stomach
8	chr17:63193800-63209800	Weak transcription	Dnd41	blood
9	chr17:63195000-63198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:63195000-63198800	Weak transcription	Brain Anterior Caudate	brain
11	chr17:63195000-63203200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:63195000-63205000	Weak transcription	Brain Substantia Nigra	brain
13	chr17:63195000-63205400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:63195000-63212400	Weak transcription	Pancreas	Pancrea
15	chr17:63195200-63209000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr17:63197400-63199000	Strong transcription	Stomach Smooth Muscle	stomach
17	chr17:63197600-63199200	Strong transcription	Pancreatic Islets	Pancreatic Islet
18	chr17:63197800-63198800	Enhancers	NHEK	skin
19	chr17:63197800-63199000	Enhancers	HMEC	breast
20	chr17:63198000-63198600	Enhancers	HUVEC	blood vessel
21	chr17:63198000-63199000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:63198000-63200000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:63198200-63198800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:63198200-63198800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:63198200-63199000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:63198200-63199000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:63198200-63199000	Bivalent Enhancer	Osteobl	bone
28	chr17:63198200-63199200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:63198200-63199400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links