Variant report

Variant	rs194606
Chromosome Location	chr6:82531367-82531368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1291464	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1291465	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171836	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17729715	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1931624	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs194601	0.87[LWK][hapmap]
rs194605	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs194619	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs194631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2184349	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2323517	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4706147	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72968	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9353032	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9361862	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9443936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs976069	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830712	chr6:82491029-82654531	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs194606	TPBG	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82522800-82531400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr6:82523800-82532600	Enhancers	Stomach Mucosa	stomach
3	chr6:82528000-82532000	Enhancers	Primary B cells from cord blood	blood
4	chr6:82528000-82532400	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:82529000-82532600	Enhancers	HepG2	liver
6	chr6:82529400-82544000	Weak transcription	Right Atrium	heart
7	chr6:82529600-82532200	Weak transcription	Gastric	stomach
8	chr6:82530600-82532000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:82530600-82532600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:82530800-82531800	Weak transcription	Fetal Intestine Small	intestine
11	chr6:82531000-82531600	Enhancers	Liver	Liver
12	chr6:82531000-82532400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:82531200-82531800	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:82531200-82531800	Weak transcription	Rectal Mucosa Donor 29	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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