Variant report

Variant	rs432449
Chromosome Location	chr5:94056825-94056826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10037940	0.85[GIH][hapmap]
rs10052066	0.83[GIH][hapmap]
rs1124667	0.83[GIH][hapmap]
rs11948061	0.89[GIH][hapmap]
rs2112449	0.83[GIH][hapmap]
rs2112450	0.89[GIH][hapmap]
rs2636	0.93[AFR][1000 genomes]
rs2638	0.85[ASW][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes]
rs306578	0.96[ASN][1000 genomes]
rs306580	0.90[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7735924	0.81[CHD][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462254	chr5:93956937-94056825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv598953	chr5:93956937-94056825	ZNF genes & repeats Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882387	chr5:94001476-94071404	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs432449	ANKRD32	Cis_1M	lymphoblastoid	RTeQTL
rs432449	MCTP1	Cis_1M	lymphoblastoid	RTeQTL
rs432449	MCTP1	cis	uninvolved skin	skin_eQTL
rs432449	MCTP1	cis	Temporal Cortex	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94039000-94064600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:94043800-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:94048600-94071600	Weak transcription	Lung	lung
4	chr5:94048600-94081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:94049400-94081400	Weak transcription	HUVEC	blood vessel
6	chr5:94049800-94077600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:94050600-94065400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:94050600-94069000	Weak transcription	Hela-S3	cervix
9	chr5:94051000-94067800	Weak transcription	Fetal Thymus	thymus
10	chr5:94052400-94079600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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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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