Variant report

Variant	rs747532
Chromosome Location	chr10:49756362-49756363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:49756143-49756661	U87	brain:	n/a	n/a
2	POLR2A	chr10:49756143-49756667	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49755429..49757315-chr10:49758822..49761538,2	K562	blood:
2	chr10:49513465..49516141-chr10:49755836..49758473,2	K562	blood:

Variant related genes	Relation type
ENSG00000231906	TF binding region
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1078261	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs1445150	0.85[CEU][hapmap]
rs1445151	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1838571	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs1838572	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2004665	0.84[CEU][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs4838419	0.96[CEU][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs4838619	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838620	0.96[CEU][hapmap];0.97[GIH][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs6537567	0.85[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.86[LWK][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7077561	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7092639	0.91[CEU][hapmap];0.86[ASN][1000 genomes]
rs7911418	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935265	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs935266	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs935267	1.00[CEU][hapmap]
rs935268	0.85[CEU][hapmap]
rs935269	1.00[CEU][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs747532	SYT15	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49734400-49762400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:49735400-49756800	Weak transcription	HSMMtube	muscle
3	chr10:49739400-49762400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:49742600-49774800	Weak transcription	Aorta	Aorta
5	chr10:49743800-49757800	Weak transcription	HMEC	breast
6	chr10:49749600-49758800	Weak transcription	NH-A	brain
7	chr10:49751200-49771600	Weak transcription	Pancreas	Pancrea
8	chr10:49751400-49759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:49752200-49760200	Strong transcription	HSMM	muscle
10	chr10:49753000-49760200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr10:49753200-49760200	Strong transcription	Osteobl	bone
12	chr10:49753400-49756400	Enhancers	Fetal Stomach	stomach
13	chr10:49753400-49759600	Strong transcription	NHLF	lung
14	chr10:49753400-49764400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:49753800-49759600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:49754000-49757400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr10:49754800-49756600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:49755000-49761800	Weak transcription	Colon Smooth Muscle	Colon
19	chr10:49755200-49756600	Enhancers	Brain Cingulate Gyrus	brain
20	chr10:49755200-49757000	Enhancers	Brain Hippocampus Middle	brain
21	chr10:49755400-49757000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:49755600-49756400	Enhancers	Brain Anterior Caudate	brain
23	chr10:49755600-49756400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:49755800-49756800	Enhancers	Brain Substantia Nigra	brain
25	chr10:49755800-49758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:49756000-49756800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:49756000-49757200	Weak transcription	NHDF-Ad	bronchial
28	chr10:49756000-49757400	Weak transcription	HUVEC	blood vessel
29	chr10:49756000-49760000	Weak transcription	Ovary	ovary
30	chr10:49756200-49757000	Enhancers	Fetal Muscle Trunk	muscle
31	chr10:49756200-49757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:49756200-49759600	Weak transcription	Brain Angular Gyrus	brain
33	chr10:49756200-49759800	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links