Variant report

Variant	rs8006004
Chromosome Location	chr14:78829124-78829125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10136254	0.81[CEU][hapmap]
rs11851331	0.81[CEU][hapmap]
rs12893958	0.88[CEU][hapmap];0.80[CHB][hapmap]
rs2110426	0.84[CEU][hapmap]
rs2110427	0.84[CEU][hapmap]
rs2215837	0.84[CEU][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs6574440	0.84[CEU][hapmap]
rs6574441	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs7144816	0.85[CHB][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap]
rs7157332	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs8015566	0.81[CEU][hapmap]
rs8017044	0.84[ASW][hapmap];0.84[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs965408	0.88[ASW][hapmap];0.84[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs969071	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2440961	chr14:78827652-78829318	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8006004	HEATR4	cis	cerebellum	SCAN
rs8006004	AHSA1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78826400-78833200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:78827000-78833400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:78827400-78833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:78827800-78831800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links