Variant report

Variant	rs17072196
Chromosome Location	chr13:49346635-49346636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1025235	1.00[EUR][1000 genomes]
rs10400612	0.83[AFR][1000 genomes]
rs1323554	1.00[EUR][1000 genomes]
rs17072194	1.00[EUR][1000 genomes]
rs60078151	1.00[EUR][1000 genomes]
rs7323683	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73480223	1.00[EUR][1000 genomes]
rs73480249	1.00[EUR][1000 genomes]
rs73482300	1.00[EUR][1000 genomes]
rs73484304	1.00[EUR][1000 genomes]
rs7987892	1.00[EUR][1000 genomes]
rs7989755	1.00[EUR][1000 genomes]
rs7994259	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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49344000-49349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:49344400-49347400	Weak transcription	Hela-S3	cervix
3	chr13:49345800-49348000	Enhancers	Dnd41	blood
4	chr13:49346000-49346800	Enhancers	Left Ventricle	heart
5	chr13:49346000-49346800	Enhancers	Right Atrium	heart
6	chr13:49346000-49348400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49346200-49346800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:49346200-49346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:49346200-49346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:49346200-49346800	Enhancers	Fetal Heart	heart
11	chr13:49346200-49347600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:49346400-49346800	Enhancers	Fetal Lung	lung
13	chr13:49346400-49350600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:49346600-49347600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:49346600-49357200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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