Variant report

Variant	rs17130997
Chromosome Location	chr1:90664986-90664987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10922805	0.96[ASN][1000 genomes]
rs10922809	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv830570	chr1:90525215-90685526	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17130997	CARD11	trans	cerebellum	SCAN
rs17130997	LRRC8D	cis	cerebellum	SCAN
rs17130997	LOC339524	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90663400-90666200	Weak transcription	Fetal Heart	heart
2	chr1:90663600-90665400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:90664000-90665000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:90664000-90665000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:90664000-90666400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:90664200-90665000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:90664200-90665000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:90664200-90665000	Enhancers	Fetal Brain Female	brain
9	chr1:90664400-90665800	Weak transcription	Fetal Kidney	kidney
10	chr1:90664400-90666200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:90664600-90665000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:90664600-90665800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:90664600-90666200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:90664600-90666400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:90664800-90666800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:90664800-90667000	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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