Variant report

Variant	rs12553082
Chromosome Location	chr9:72649210-72649211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72649187..72651016-chr9:72654412..72657228,2	K562	blood:
2	chr9:72649187..72651651-chr9:72654412..72657228,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1027282	0.86[EUR][1000 genomes]
rs10511978	0.86[EUR][1000 genomes]
rs11141246	0.88[EUR][1000 genomes]
rs11141260	0.88[EUR][1000 genomes]
rs11789512	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11790329	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12551035	0.89[EUR][1000 genomes]
rs12551904	0.89[EUR][1000 genomes]
rs12554412	0.82[EUR][1000 genomes]
rs12554849	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12686422	0.84[EUR][1000 genomes]
rs17522643	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17522671	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2131427	0.84[EUR][1000 genomes]
rs2131428	0.84[EUR][1000 genomes]
rs2201232	0.84[EUR][1000 genomes]
rs4397475	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4457397	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4458932	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55897975	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56200303	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56399669	0.90[EUR][1000 genomes]
rs57388366	0.89[EUR][1000 genomes]
rs61210535	0.84[EUR][1000 genomes]
rs62572589	0.84[EUR][1000 genomes]
rs62572604	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62572605	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62572631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62572633	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62572634	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66542913	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7026154	0.86[EUR][1000 genomes]
rs72709193	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73456376	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs954376	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs954378	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72646400-72650400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:72646600-72650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:72646800-72651000	Weak transcription	NHDF-Ad	bronchial
4	chr9:72646800-72651600	Weak transcription	HMEC	breast
5	chr9:72646800-72653000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:72646800-72653000	Weak transcription	HUVEC	blood vessel
7	chr9:72647400-72657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:72648000-72653000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:72648200-72650200	Enhancers	HSMMtube	muscle
10	chr9:72648400-72650200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:72648600-72649800	Enhancers	Esophagus	oesophagus
12	chr9:72648600-72649800	Enhancers	NH-A	brain
13	chr9:72648600-72650200	Enhancers	HSMM	muscle
14	chr9:72648800-72650000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:72649000-72649400	Enhancers	NHEK	skin
16	chr9:72649000-72650000	Enhancers	Osteobl	bone
17	chr9:72649000-72650200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:72649200-72649400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:72649200-72649400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:72649200-72649400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:72649200-72649400	Enhancers	Aorta	Aorta
22	chr9:72649200-72649400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:72649200-72649800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:72649200-72649800	Enhancers	Fetal Muscle Leg	muscle
25	chr9:72649200-72652000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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