Variant report

Variant	rs634002
Chromosome Location	chr13:76300682-76300683
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12876531	0.89[EUR][1000 genomes]
rs2181686	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4539478	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs617686	0.81[EUR][1000 genomes]
rs625033	0.81[EUR][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1091	chr13:76282392-76327906	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv976261	chr13:76297598-76301199	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr13:76279400-76308000	Weak transcription	Left Ventricle	heart
2	chr13:76283600-76308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76294800-76321800	Weak transcription	NH-A	brain
4	chr13:76297000-76300800	Enhancers	Hela-S3	cervix
5	chr13:76297800-76301400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:76297800-76301400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:76298000-76301400	Enhancers	Stomach Mucosa	stomach
8	chr13:76298200-76301000	Enhancers	HUVEC	blood vessel
9	chr13:76298400-76301200	Enhancers	Fetal Lung	lung
10	chr13:76298600-76309200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:76298600-76313000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:76298600-76318800	Weak transcription	Gastric	stomach
13	chr13:76299200-76301000	Enhancers	Fetal Heart	heart
14	chr13:76299200-76307800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:76299200-76308000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:76299400-76307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:76299600-76300800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr13:76299600-76310400	Weak transcription	NHLF	lung
19	chr13:76299800-76300800	Weak transcription	Fetal Intestine Small	intestine
20	chr13:76299800-76313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:76300000-76300800	Weak transcription	Osteobl	bone
22	chr13:76300000-76301400	Weak transcription	Fetal Intestine Large	intestine
23	chr13:76300200-76300800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr13:76300200-76301200	Enhancers	HSMMtube	muscle
25	chr13:76300200-76309200	Weak transcription	NHDF-Ad	bronchial
26	chr13:76300200-76313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:76300400-76301000	Weak transcription	HSMM	muscle
28	chr13:76300400-76301400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:76300400-76301400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:76300600-76301400	Enhancers	Fetal Kidney	kidney

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