Variant report

Variant	rs73316435
Chromosome Location	chr17:45329477-45329478
allele	C/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	FOXA1	chr17:45329441-45329977	HepG2	liver:	n/a	n/a
2	FOXA1	chr17:45329260-45329945	HepG2	liver:	n/a	n/a
3	FOXA2	chr17:45329441-45329908	HepG2	liver:	n/a	n/a
4	CEBPB	chr17:45329472-45329697	MCF-7	breast:	n/a	chr17:45329581-45329592 chr17:45329583-45329594
5	CEBPB	chr17:45329432-45329893	HepG2	liver:	n/a	chr17:45329581-45329592 chr17:45329583-45329594
6	FOXA1	chr17:45329430-45329956	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45326928..45330471-chr17:45335403..45338279,3	K562	blood:

Variant related genes	Relation type
ENSG00000259753	TF binding region
ITGB3	TF binding region
ENSG00000238419	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11653733	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62074393	1.00[ASN][1000 genomes]
rs62074394	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62074395	1.00[ASN][1000 genomes]
rs62074396	1.00[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73316435	C17orf57,C5orf45,LOC100272146	cis	brain	BrainEAC

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:45318600-45329600	Weak transcription	Left Ventricle	heart
3	chr17:45318600-45329600	Weak transcription	Right Atrium	heart
4	chr17:45318600-45330600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:45318600-45331200	Weak transcription	HSMMtube	muscle
6	chr17:45322400-45329600	Weak transcription	Ovary	ovary
7	chr17:45323000-45330600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:45324400-45329800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:45326800-45330800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:45328200-45330400	Weak transcription	Adipose Nuclei	Adipose
11	chr17:45328600-45329600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr17:45328600-45329600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:45328600-45329600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:45328600-45329600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr17:45328600-45329800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr17:45328600-45329800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr17:45328600-45330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:45328600-45330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:45328600-45330600	Enhancers	Fetal Intestine Small	intestine
20	chr17:45328600-45330600	Enhancers	K562	blood
21	chr17:45328600-45330800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:45328800-45332200	Enhancers	Fetal Heart	heart
23	chr17:45329000-45329600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:45329000-45330800	Enhancers	Fetal Intestine Large	intestine
25	chr17:45329200-45329600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr17:45329400-45329600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr17:45329400-45329600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr17:45329400-45329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:45329400-45330200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
30	chr17:45329400-45330200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:45329400-45330400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr17:45329400-45330400	Flanking Active TSS	HepG2	liver
33	chr17:45329400-45330600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:45329400-45330800	Enhancers	Placenta	Placenta
35	chr17:45329400-45331200	Enhancers	Liver	Liver

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