Variant report

Variant	rs4943548
Chromosome Location	chr13:38500239-38500240
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	chr13:38498487..38501479-chr13:38515502..38517509,2	K562	blood:
2	chr13:38498164..38500291-chr13:38507345..38509596,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12429858	0.86[EUR][1000 genomes]
rs1337605	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1337607	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1415599	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1415628	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1556781	0.81[EUR][1000 genomes]
rs2210979	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2485286	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34544559	0.86[EUR][1000 genomes]
rs4943547	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4943551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563572	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6563573	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6563574	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7322764	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7327323	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7336052	0.86[EUR][1000 genomes]
rs7992543	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7994671	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7994826	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs817729	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9315526	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945858	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945859	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9548093	0.85[EUR][1000 genomes]
rs9548104	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548108	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548115	0.80[ASN][1000 genomes]
rs9576402	0.81[EUR][1000 genomes]
rs9576405	0.81[EUR][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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv899996	chr13:38459224-38577056	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv899997	chr13:38480878-38518459	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv899998	chr13:38480878-38582178	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4943548	C13orf38	cis	parietal	SCAN
rs4943548	MRPS31	cis	cerebellum	SCAN
rs4943548	C13orf23	cis	cerebellum	SCAN
rs4943548	ALG5	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38499800-38500600	Active TSS	Stomach Smooth Muscle	stomach
2	chr13:38499800-38501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:38500000-38500400	Active TSS	Right Ventricle	heart
4	chr13:38500200-38500800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr13:38500200-38503600	Weak transcription	Fetal Heart	heart
6	chr13:38500200-38508400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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