Variant report

Variant	rs716745
Chromosome Location	chr11:56954846-56954847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56952647..56955298-chr11:56956349..56958322,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10501363	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10896574	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10896575	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10896577	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896582	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896587	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896588	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11228936	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11228937	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11228941	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11228944	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11228955	0.81[ASN][1000 genomes]
rs1124847	0.85[CEU][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs12225155	0.84[ASN][1000 genomes]
rs1943479	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1943486	0.92[ASN][1000 genomes]
rs1943489	0.85[CEU][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2077189	0.85[CEU][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs2903267	0.85[CEU][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs3017574	0.80[EUR][1000 genomes]
rs3017575	0.85[CEU][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs3758922	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs721608	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72918002	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs948849	0.88[AMR][1000 genomes];0.94[EUR][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs716745	P2RX3	cis	cerebellum	SCAN
rs716745	OR5L2	cis	parietal	SCAN
rs716745	MRPL16	cis	parietal	SCAN
rs716745	OR8H1	cis	parietal	SCAN
rs716745	OR8K5	cis	parietal	SCAN
rs716745	OR5M9	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56948200-56959200	Weak transcription	Gastric	stomach
2	chr11:56948400-56959400	Weak transcription	Right Atrium	heart
3	chr11:56948600-56955400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:56949200-56955000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:56949400-56962600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:56950200-56955200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:56950200-56960400	Weak transcription	Right Ventricle	heart
8	chr11:56950200-56969800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:56952600-56967000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:56953000-56958400	Strong transcription	Brain Germinal Matrix	brain
11	chr11:56953200-56958400	Weak transcription	Fetal Brain Male	brain
12	chr11:56954000-56957800	Strong transcription	Fetal Brain Female	brain
13	chr11:56954400-56958400	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:56954800-56955000	Enhancers	Lung	lung
15	chr11:56954800-56955200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:56954800-56955200	Strong transcription	Fetal Stomach	stomach

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