Variant report

Variant	rs4075732
Chromosome Location	chr9:96624526-96624527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10739960	1.00[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10821241	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4428725	1.00[CEU][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4744295	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893588	chr9:96620419-96668352	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4075732	HABP4	cis	parietal	SCAN
rs4075732	PTCH1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96619800-96626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:96623400-96626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:96623600-96626000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:96623800-96624800	Bivalent Enhancer	Fetal Stomach	stomach
5	chr9:96623800-96625000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:96624200-96624600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:96624200-96624800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr9:96624400-96624600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr9:96624400-96631400	Weak transcription	H9 Cell Line	embryonic stem cell

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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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