Variant report

Variant	rs2389005
Chromosome Location	chr13:94149668-94149669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7982949	0.95[ASN][1000 genomes]
rs7990894	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7994607	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9301884	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9516237	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9516241	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9524077	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9524080	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9524082	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9524084	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916039	chr13:94035909-94191105	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562749	chr13:94083352-94263206	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv900920	chr13:94088707-94151937	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv1842896	chr13:94095160-94153194	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv900921	chr13:94105666-94157481	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv900922	chr13:94105666-94281492	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94148600-94150000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94149000-94149800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr13:94149000-94150000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:94149000-94150000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:94149200-94149800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:94149200-94149800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:94149200-94150200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:94149200-94150200	Enhancers	Fetal Heart	heart
9	chr13:94149400-94149800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:94149400-94149800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:94149400-94149800	Enhancers	Fetal Brain Female	brain
12	chr13:94149400-94152200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:94149600-94150000	Enhancers	Fetal Lung	lung
14	chr13:94149600-94151600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:94149600-94151600	Weak transcription	Fetal Stomach	stomach
16	chr13:94149600-94152000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:94149600-94152200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:94149600-94152200	Weak transcription	H1 BMP4 Derived Mesendoderm 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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