Variant report

Variant	rs9943367
Chromosome Location	chr10:53015391-53015392
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10490978	0.84[ASN][1000 genomes]
rs10822481	0.82[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.83[ASN][1000 genomes]
rs10822496	0.97[ASN][1000 genomes]
rs1865645	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1915672	0.84[ASN][1000 genomes]
rs1915673	0.82[ASN][1000 genomes]
rs1915674	0.83[ASN][1000 genomes]
rs2219884	0.81[ASN][1000 genomes]
rs34267302	0.82[ASN][1000 genomes]
rs35069383	0.82[ASN][1000 genomes]
rs3844130	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7079584	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	esv2757383	chr10:52995974-53015583	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	esv2759750	chr10:52995974-53015583	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv831874	chr10:53010357-53195508	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9943367	ARHGAP22	cis	cerebellum	SCAN
rs9943367	PRKG1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53006200-53015800	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:53006800-53017000	Weak transcription	Aorta	Aorta
3	chr10:53006800-53017600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:53007400-53016600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:53010600-53017200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr10:53011200-53016200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:53011200-53017200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:53012000-53017400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:53013000-53017000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:53013000-53017000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr10:53013000-53022800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:53013600-53017000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr10:53015000-53015800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr10:53015000-53015800	Enhancers	Fetal Muscle Leg	muscle
15	chr10:53015200-53015400	Enhancers	NHLF	lung
16	chr10:53015200-53015600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:53015200-53015600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:53015200-53015600	Enhancers	Psoas Muscle	Psoas
19	chr10:53015200-53015800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:53015200-53016000	Enhancers	Rectal Smooth Muscle	rectum

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