Variant report

Variant	rs17200319
Chromosome Location	chr13:38228240-38228241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41292233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306668	1.00[AFR][1000 genomes]
rs4512969	1.00[AFR][1000 genomes]
rs4628831	1.00[AFR][1000 genomes]
rs6750	1.00[AFR][1000 genomes]
rs73182620	1.00[AFR][1000 genomes]
rs73182622	1.00[AFR][1000 genomes]
rs73182624	1.00[AFR][1000 genomes]
rs73182687	1.00[AFR][1000 genomes]
rs73182690	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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv983740	chr13:38225625-38228732	Enhancers Weak transcription Genic enhancers Strong transcription	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	chr13:38211400-38275600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:38219600-38230600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:38221600-38239600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:38221800-38231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:38221800-38233200	Weak transcription	Ovary	ovary
6	chr13:38221800-38239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:38223600-38229200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:38224400-38233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:38225600-38246600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:38226400-38229800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:38226400-38230000	Weak transcription	NHLF	lung
12	chr13:38226800-38230000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:38226800-38230200	Weak transcription	HSMM	muscle
14	chr13:38227000-38228800	Weak transcription	NHDF-Ad	bronchial
15	chr13:38227000-38228800	Weak transcription	Osteobl	bone
16	chr13:38227000-38229800	Weak transcription	Hela-S3	cervix
17	chr13:38227000-38230000	Weak transcription	NHEK	skin
18	chr13:38227200-38229600	Weak transcription	NH-A	brain
19	chr13:38227200-38229800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:38227200-38230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:38227200-38230400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:38228000-38238200	Weak transcription	Left Ventricle	heart

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