Variant report

Variant	rs73648422
Chromosome Location	chr9:13897947-13897948
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:13896594..13899401-chr9:13941918..13943557,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16931065	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16931096	0.97[EUR][1000 genomes]
rs55654911	0.94[EUR][1000 genomes]
rs57652940	0.81[EUR][1000 genomes]
rs60162449	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62533706	1.00[EUR][1000 genomes]
rs73648004	1.00[AFR][1000 genomes]
rs73648005	1.00[AFR][1000 genomes]
rs73648006	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1032113	chr9:13861066-13923136	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1032447	chr9:13861066-13923673	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv613635	chr9:13893246-13961462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr9:13880600-13899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13892000-13898600	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:13895400-13899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:13895800-13898200	Enhancers	HUVEC	blood vessel
5	chr9:13896800-13898200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:13897000-13898000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:13897000-13899000	Enhancers	Fetal Kidney	kidney
8	chr9:13897200-13898000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:13897200-13898600	Weak transcription	Left Ventricle	heart
10	chr9:13897200-13899000	Weak transcription	Placenta	Placenta
11	chr9:13897600-13898600	Weak transcription	Fetal Stomach	stomach
12	chr9:13897600-13898800	Weak transcription	HSMM	muscle
13	chr9:13897600-13899400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:13897600-13900000	Enhancers	Fetal Heart	heart
15	chr9:13897800-13898800	Weak transcription	Brain Substantia Nigra	brain
16	chr9:13897800-13898800	Weak transcription	Fetal Lung	lung
17	chr9:13897800-13898800	Weak transcription	NHEK	skin
18	chr9:13897800-13899000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:13897800-13899400	Weak transcription	Adipose Nuclei	Adipose
20	chr9:13897800-13899800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:13897800-13899800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:13897800-13900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:13897800-13900000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:13897800-13900000	Weak transcription	Aorta	Aorta
25	chr9:13897800-13901600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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