Variant report

Variant	rs9595792
Chromosome Location	chr13:48389183-48389184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11618591	1.00[ASN][1000 genomes]
rs1324800	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17070878	1.00[ASN][1000 genomes]
rs17424172	1.00[ASN][1000 genomes]
rs56006951	1.00[ASN][1000 genomes]
rs7982822	1.00[ASN][1000 genomes]
rs8001976	0.80[AFR][1000 genomes]
rs9534838	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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48385000-48392600	Weak transcription	Brain Germinal Matrix	brain
2	chr13:48387000-48392600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:48387400-48391800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:48388400-48389800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:48388400-48391400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:48388600-48390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:48388600-48390600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:48388600-48390600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:48388800-48389800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:48388800-48389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:48388800-48389800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:48388800-48390800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:48388800-48391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:48388800-48392200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:48389000-48390000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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

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