Variant report

Variant	rs9595618
Chromosome Location	chr13:47749717-47749718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11842246	0.84[EUR][1000 genomes]
rs17069575	0.81[EUR][1000 genomes]
rs17069577	0.81[EUR][1000 genomes]
rs58611201	0.81[EUR][1000 genomes]
rs61003241	0.81[EUR][1000 genomes]
rs7330154	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7331421	0.93[AFR][1000 genomes]
rs73485231	0.81[EUR][1000 genomes]
rs73485299	0.81[EUR][1000 genomes]
rs73485302	0.81[EUR][1000 genomes]
rs7492065	1.00[EUR][1000 genomes]
rs9316262	0.93[AFR][1000 genomes]
rs9316265	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9562713	0.93[AFR][1000 genomes]
rs9562714	0.93[AFR][1000 genomes]
rs9562715	0.93[AFR][1000 genomes]
rs9567802	0.93[AFR][1000 genomes]
rs9567804	0.93[AFR][1000 genomes]
rs9567805	0.93[AFR][1000 genomes]
rs9595619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1028	chr13:47745293-47760918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47748800-47750600	Enhancers	NHDF-Ad	bronchial
2	chr13:47749000-47750400	Enhancers	NHLF	lung
3	chr13:47749200-47750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:47749200-47750200	Enhancers	Fetal Lung	lung
5	chr13:47749200-47750400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:47749200-47750400	Enhancers	NH-A	brain
7	chr13:47749200-47750400	Enhancers	Osteobl	bone
8	chr13:47749200-47752000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:47749200-47752200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:47749400-47750000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr13:47749400-47750200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:47749400-47750200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:47749400-47750200	Enhancers	HSMM	muscle
14	chr13:47749400-47750400	Enhancers	Hela-S3	cervix
15	chr13:47749400-47750400	Enhancers	HMEC	breast
16	chr13:47749400-47751800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:47749600-47750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:47749600-47750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:47749600-47750200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:47749600-47750200	Enhancers	HSMMtube	muscle
21	chr13:47749600-47750400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:47749600-47751200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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