Variant report

Variant	rs9332618
Chromosome Location	chr1:169500481-169500482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10919190	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12120605	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12120904	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12131397	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12139696	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2301518	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9332630	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9332640	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872533	chr1:169490401-169508576	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9332618	C1orf114	cis	cerebellum	SCAN
rs9332618	C1orf114	cis	parietal	SCAN
rs9332618	FMO9P	cis	parietal	SCAN
rs9332618	SCYL3	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169484800-169501000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:169485400-169510600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:169487400-169501000	Weak transcription	Right Ventricle	heart
4	chr1:169491600-169500800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:169494000-169502800	Strong transcription	HepG2	liver
6	chr1:169496000-169515200	Strong transcription	Liver	Liver
7	chr1:169498400-169524000	Weak transcription	Placenta	Placenta
8	chr1:169498600-169506200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:169498600-169507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:169498800-169501600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:169499000-169500600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:169499000-169501800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:169499000-169504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:169499000-169508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:169499000-169519000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:169499800-169501800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:169500000-169504600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:169500200-169526800	Weak transcription	Left Ventricle	heart

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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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