Variant report

Variant	rs1493046
Chromosome Location	chr9:72577388-72577389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1027283	0.90[ASN][1000 genomes]
rs1027284	0.89[ASN][1000 genomes]
rs10735572	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10780718	0.96[ASN][1000 genomes]
rs10780724	0.96[ASN][1000 genomes]
rs10868291	0.96[ASN][1000 genomes]
rs10868299	0.96[ASN][1000 genomes]
rs10868327	0.95[ASN][1000 genomes]
rs10868358	0.85[ASN][1000 genomes]
rs10868378	0.80[ASN][1000 genomes]
rs1121607	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1121608	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1389125	0.90[ASN][1000 genomes]
rs1473520	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1493047	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1542769	0.90[ASN][1000 genomes]
rs1586914	0.96[ASN][1000 genomes]
rs1873825	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1907956	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1907959	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1976234	0.85[ASN][1000 genomes]
rs2035922	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3015226	0.81[ASN][1000 genomes]
rs4403478	0.85[ASN][1000 genomes]
rs4413835	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4418399	0.81[ASN][1000 genomes]
rs4445287	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4487845	0.89[ASN][1000 genomes]
rs4490905	0.89[ASN][1000 genomes]
rs4574911	0.90[ASN][1000 genomes]
rs4636269	0.85[ASN][1000 genomes]
rs4744583	0.85[ASN][1000 genomes]
rs4744584	0.81[ASN][1000 genomes]
rs4744959	0.82[ASN][1000 genomes]
rs6559854	0.86[ASN][1000 genomes]
rs7019025	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7025044	0.96[ASN][1000 genomes]
rs7029606	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7035415	0.89[ASN][1000 genomes]
rs7037671	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7847934	0.96[ASN][1000 genomes]
rs7863165	0.96[ASN][1000 genomes]
rs7863229	0.85[ASN][1000 genomes]
rs870011	0.89[ASN][1000 genomes]
rs902964	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs931500	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs953372	0.85[ASN][1000 genomes]
rs996375	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1035668	chr9:72555053-72632796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1051004	chr9:72557761-72632015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 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	chr9:72576400-72577800	Enhancers	NHEK	skin
2	chr9:72576600-72577600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:72576600-72577800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr9:72576800-72577400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:72576800-72578000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:72576800-72580400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:72576800-72580600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:72577000-72577600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:72577000-72577800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:72577000-72578600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:72577000-72580400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr9:72577200-72578200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:72577200-72578400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:72577200-72578400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:72577200-72578600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:72577200-72578600	Weak transcription	NH-A	brain
17	chr9:72577200-72578600	Weak transcription	NHDF-Ad	bronchial
18	chr9:72577200-72578600	Weak transcription	NHLF	lung
19	chr9:72577200-72578600	Weak transcription	Osteobl	bone
20	chr9:72577200-72579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:72577200-72579800	Weak transcription	HMEC	breast
22	chr9:72577200-72580000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:72577200-72584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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