Variant report

Variant	rs73622462
Chromosome Location	chr13:110758418-110758419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110753728..110755942-chr13:110757866..110759784,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2893361	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4771659	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4773126	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59891247	1.00[EUR][1000 genomes]
rs73622456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73622484	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73622487	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73622488	1.00[EUR][1000 genomes]
rs74124127	1.00[EUR][1000 genomes]
rs74124150	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv563095	chr13:110724710-110761521	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv901005	chr13:110733102-110766350	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv515849	chr13:110742197-110761521	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv456111	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv456112	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv456113	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv563096	chr13:110742197-110761521	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv563097	chr13:110742197-110766350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv456114	chr13:110742919-110761521	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv563098	chr13:110742919-110761521	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv563099	chr13:110749252-110778894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110755400-110760000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:110755800-110758600	Weak transcription	Adipose Nuclei	Adipose
3	chr13:110756200-110759000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:110756400-110758600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:110756400-110761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:110756600-110760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:110756800-110758600	Enhancers	Placenta	Placenta
8	chr13:110756800-110761200	Weak transcription	NHEK	skin
9	chr13:110757000-110759600	Enhancers	Pancreas	Pancrea
10	chr13:110757000-110761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:110757200-110759000	Enhancers	Stomach Smooth Muscle	stomach
12	chr13:110757200-110759800	Enhancers	Fetal Heart	heart
13	chr13:110757200-110759800	Enhancers	Left Ventricle	heart
14	chr13:110757200-110761000	Weak transcription	HMEC	breast
15	chr13:110757200-110761200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:110757400-110759200	Enhancers	Right Atrium	heart
17	chr13:110757400-110760800	Weak transcription	Lung	lung
18	chr13:110757600-110759000	Weak transcription	Fetal Muscle Leg	muscle
19	chr13:110757600-110759600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:110757800-110758800	Weak transcription	Aorta	Aorta
21	chr13:110757800-110759000	Weak transcription	Right Ventricle	heart
22	chr13:110757800-110761600	Weak transcription	Brain Substantia Nigra	brain
23	chr13:110757800-110761600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr13:110758400-110758600	Enhancers	Fetal Stomach	stomach
25	chr13:110758400-110759000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:110758400-110759600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr13:110758400-110759800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:110758400-110760000	Enhancers	Colon Smooth Muscle	Colon
29	chr13:110758400-110760000	Enhancers	Rectal Smooth Muscle	rectum
30	chr13:110758400-110761800	Enhancers	Skeletal Muscle Male	skeletal muscle

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