Variant report

Variant	rs17455513
Chromosome Location	chr9:73054508-73054509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73034281..73038222-chr9:73053747..73058786,6	K562	blood:
2	chr9:73024556..73027368-chr9:73052076..73054803,4	K562	blood:
3	chr9:73053817..73058794-chr9:73059603..73063143,5	K562	blood:
4	chr9:73024556..73027041-chr9:73052787..73054803,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10780934	0.85[EUR][1000 genomes]
rs11142419	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11142421	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1475820	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17455773	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17534370	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41530345	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60480667	0.85[ASN][1000 genomes]
rs73462451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73462466	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73462472	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73462475	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73462480	0.85[ASN][1000 genomes]
rs73462482	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7853214	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs915489	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs915490	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73050400-73056200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr9:73051000-73056000	Enhancers	HUVEC	blood vessel
3	chr9:73053000-73054800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr9:73053000-73056000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:73053200-73055600	Enhancers	A549	lung
6	chr9:73053200-73057600	Enhancers	HepG2	liver
7	chr9:73053400-73054600	Enhancers	Small Intestine	intestine
8	chr9:73053600-73054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:73053600-73054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:73053600-73071000	Weak transcription	Right Atrium	heart
11	chr9:73053800-73055000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:73053800-73055000	Weak transcription	NH-A	brain
13	chr9:73053800-73055000	Weak transcription	NHLF	lung
14	chr9:73053800-73056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:73053800-73056600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:73054000-73055000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:73054000-73057000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:73054000-73065000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:73054200-73057600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:73054400-73055000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:73054400-73055800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:73054400-73056200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:73054400-73057400	Weak transcription	Left Ventricle	heart
24	chr9:73054400-73066600	Weak transcription	Psoas Muscle	Psoas

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