Variant report

Variant	rs8001976
Chromosome Location	chr13:48387722-48387723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10507562	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17424137	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9595792	0.80[AFR][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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561590	chr13:48350699-48399027	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Aging (time to event)	21782286	GWAS catalog

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48377400-48387800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:48383800-48388400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:48385000-48392600	Weak transcription	Brain Germinal Matrix	brain
4	chr13:48387000-48392600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:48387400-48387800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:48387400-48389000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:48387400-48391800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:48387600-48387800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:48387600-48388000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:48387600-48388200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:48387600-48388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:48387600-48388600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:48387600-48388800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr13:48387600-48388800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:48387600-48388800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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