Variant report

Variant	rs17055812
Chromosome Location	chr13:38050021-38050022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17055914	1.00[AMR][1000 genomes]
rs59513287	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60802298	1.00[AMR][1000 genomes]
rs60897708	1.00[AMR][1000 genomes]
rs7323037	1.00[AMR][1000 genomes]
rs73448507	1.00[AMR][1000 genomes]
rs73448566	1.00[AMR][1000 genomes]
rs73448575	1.00[AMR][1000 genomes]
rs73448579	1.00[AMR][1000 genomes]
rs73448581	1.00[AMR][1000 genomes]
rs73448583	1.00[AMR][1000 genomes]
rs73448585	1.00[AMR][1000 genomes]
rs73448586	1.00[AMR][1000 genomes]
rs73448588	1.00[AMR][1000 genomes]
rs73448590	1.00[AMR][1000 genomes]
rs73448599	1.00[AMR][1000 genomes]
rs73464432	1.00[AMR][1000 genomes]
rs73464436	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464453	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7984526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3509075	chr13:38046252-38051150	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	n/a
9	nsv511513	chr13:38048308-38050826	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38048800-38051200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:38049200-38051200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:38049400-38051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:38049400-38051400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:38049400-38051400	Enhancers	NH-A	brain
6	chr13:38049400-38051600	Enhancers	Osteobl	bone
7	chr13:38049400-38051800	Enhancers	NHDF-Ad	bronchial
8	chr13:38049600-38051600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:38049600-38054200	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:38049800-38050800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:38049800-38051600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:38049800-38053600	Weak transcription	Fetal Lung	lung
13	chr13:38049800-38054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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