Variant report

Variant	rs503693
Chromosome Location	chr13:30521992-30521993
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10492460	0.81[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs475607	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs485057	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs486677	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs531084	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs562459	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs571307	0.92[CEU][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs572055	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs573132	0.92[CEU][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs588372	0.92[CEU][hapmap]
rs602388	0.84[EUR][1000 genomes]
rs605446	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs605464	0.83[EUR][1000 genomes]
rs605478	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs619367	0.83[EUR][1000 genomes]
rs632214	0.83[EUR][1000 genomes]
rs632258	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs633496	0.92[CEU][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs646983	0.92[CEU][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs647794	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs651873	0.84[CEU][hapmap]
rs669105	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73159322	0.82[ASN][1000 genomes]
rs73159324	0.83[ASN][1000 genomes]
rs7338743	0.83[EUR][1000 genomes]
rs7996122	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs818608	0.82[MEX][hapmap]
rs865324	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs866019	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs912785	0.92[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs503693	RNF6	cis	parietal	SCAN
rs503693	ATP5EP2	cis	parietal	SCAN
rs503693	FAM123A	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30517400-30526000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:30518200-30522000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:30519000-30524000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr13:30520200-30523000	Weak transcription	Placenta	Placenta
7	chr13:30521600-30523600	Enhancers	Brain Substantia Nigra	brain
8	chr13:30521800-30522200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links