Variant report

Variant	rs226420
Chromosome Location	chr17:34065393-34065394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs178940	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs226421	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs226422	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs226420	PIGW	cis	cerebellum	SCAN
rs226420	ZNF830	cis	parietal	SCAN
rs226420	RFFL	cis	parietal	SCAN
rs226420	CCL4	cis	lymphoblastoid	seeQTL
rs226420	SUZ12P	cis	parietal	SCAN
rs226420	KCNN4	trans	lymphoblastoid	seeQTL
rs226420	SLFN5	cis	parietal	SCAN
rs226420	RASL10B	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34059600-34067200	Weak transcription	Spleen	Spleen
2	chr17:34059600-34068000	Weak transcription	Right Ventricle	heart
3	chr17:34060000-34065600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:34060000-34065800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:34060000-34068000	Weak transcription	Right Atrium	heart
6	chr17:34060400-34068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:34060600-34067400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:34060800-34067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:34062600-34068000	Weak transcription	Lung	lung

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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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