Variant report

Variant	rs4705783
Chromosome Location	chr5:112462449-112462450
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	FOS	chr5:112462422-112462619	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112455253..112458185-chr5:112461323..112464102,2	MCF-7	breast:

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10040400	0.84[ASN][1000 genomes]
rs10074318	0.85[CHB][hapmap]
rs10478110	0.84[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10519334	0.82[JPT][hapmap]
rs11241191	0.82[ASN][1000 genomes]
rs11241192	0.82[ASN][1000 genomes]
rs11241193	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11953203	0.84[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12188482	0.83[ASN][1000 genomes]
rs12517185	0.85[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12517187	0.82[ASN][1000 genomes]
rs13156718	0.84[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs13174483	0.85[CHB][hapmap];0.86[CHD][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs13183638	0.89[CHD][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]
rs13184187	0.83[ASN][1000 genomes]
rs1443693	1.00[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs1947026	0.83[JPT][hapmap]
rs2044238	0.83[CHB][hapmap]
rs36041392	0.83[ASN][1000 genomes]
rs3884576	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3922563	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3922583	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922584	0.91[CEU][hapmap]
rs3922585	0.89[CHB][hapmap]
rs4078252	0.96[CEU][hapmap];0.85[TSI][hapmap]
rs4078253	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4078254	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4235793	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4262097	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705542	0.90[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs4705543	0.84[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs4705544	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705545	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705780	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705782	0.83[TSI][hapmap]
rs4705786	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4705787	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4705788	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62374710	0.83[ASN][1000 genomes]
rs6594683	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6594686	0.81[EUR][1000 genomes]
rs6594687	1.00[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs6859611	0.81[EUR][1000 genomes]
rs6859963	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6869399	0.85[CHB][hapmap]
rs7700271	0.82[ASN][1000 genomes]
rs7702177	0.96[CEU][hapmap]
rs7704382	0.82[ASN][1000 genomes]
rs7731180	0.82[ASN][1000 genomes]
rs9326877	0.82[ASN][1000 genomes]
rs9326878	0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs9326879	0.85[CHB][hapmap];0.80[CHD][hapmap]
rs9885385	0.82[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4705783	SRP19	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112456600-112467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112458800-112476600	Weak transcription	NHEK	skin
7	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
8	chr5:112459600-112462800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:112459800-112462600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:112460600-112462600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112460600-112463600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:112460600-112465000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:112460800-112464600	Weak transcription	Psoas Muscle	Psoas
14	chr5:112460800-112466800	Weak transcription	Fetal Brain Male	brain
15	chr5:112460800-112467400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:112461000-112466600	Weak transcription	Right Atrium	heart
17	chr5:112461200-112469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:112461400-112466200	Weak transcription	Left Ventricle	heart
19	chr5:112461400-112466600	Weak transcription	Right Ventricle	heart
20	chr5:112461400-112468400	Weak transcription	Ovary	ovary
21	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:112461600-112464000	Weak transcription	Fetal Brain Female	brain
23	chr5:112461800-112463600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:112461800-112463800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112462000-112467400	Weak transcription	Adipose Nuclei	Adipose
27	chr5:112462200-112463600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:112462200-112463600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:112462200-112463600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:112462200-112464000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:112462200-112466600	Weak transcription	Fetal Heart	heart
32	chr5:112462200-112475600	Weak transcription	Liver	Liver
33	chr5:112462400-112463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:112462400-112464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:112462400-112465200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:112462400-112466200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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