Variant report

Variant	rs1736556
Chromosome Location	chr1:171078569-171078570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10911192	0.83[MEX][hapmap]
rs1736560	0.86[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap]
rs1736561	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1736564	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1736565	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1736567	0.91[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1736568	0.81[EUR][1000 genomes]
rs1795240	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1795241	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1795243	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1795244	0.91[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1795245	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1795248	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1920149	0.81[AFR][1000 genomes]
rs2075992	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6608459	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6608461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7054564	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7056422	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1736556	ALDH9A1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171071000-171079600	Weak transcription	Left Ventricle	heart
2	chr1:171075600-171079800	Weak transcription	Pancreas	Pancrea
3	chr1:171076800-171079600	Enhancers	Fetal Lung	lung
4	chr1:171077000-171078600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:171077600-171081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:171077800-171080000	Weak transcription	Small Intestine	intestine
7	chr1:171078000-171079000	Weak transcription	NHLF	lung
8	chr1:171078000-171079600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:171078200-171079400	Strong transcription	Liver	Liver
10	chr1:171078200-171079400	Weak transcription	Right Atrium	heart
11	chr1:171078200-171079600	Weak transcription	Aorta	Aorta
12	chr1:171078400-171079400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:171078400-171079800	Weak transcription	Adipose Nuclei	Adipose

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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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