Variant report

Variant	rs2440333
Chromosome Location	chr15:53049094-53049095
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1899743	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2440326	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2440330	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2440332	0.89[EUR][1000 genomes]
rs2440336	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2456535	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2456537	0.88[EUR][1000 genomes]
rs2456538	0.86[EUR][1000 genomes]
rs935191	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv457142	chr15:53041887-53091896	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv569427	chr15:53041887-53091896	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2440333	KIAA1370	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53043600-53061000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:53044000-53049200	Weak transcription	Pancreas	Pancrea
3	chr15:53045600-53055200	Strong transcription	Liver	Liver
4	chr15:53045800-53070800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:53046000-53051400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:53046200-53049200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:53046200-53049800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:53046200-53050200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:53046200-53051000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:53048200-53050200	Strong transcription	HepG2	liver

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Input of quick search could be:

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

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