Variant report

Variant	rs12055073
Chromosome Location	chr5:50575966-50575967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10080044	0.97[ASN][1000 genomes]
rs10939904	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12187872	0.99[ASN][1000 genomes]
rs16878699	0.91[ASN][1000 genomes]
rs2062722	0.88[ASN][1000 genomes]
rs2134251	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202134	0.94[ASN][1000 genomes]
rs34503818	0.99[ASN][1000 genomes]
rs35603247	0.99[ASN][1000 genomes]
rs6897940	0.92[ASN][1000 genomes]
rs7709442	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7712418	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs924626	0.99[ASN][1000 genomes]
rs9291701	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9291725	0.91[ASN][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	nsv1020970	chr5:50569183-50657424	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12055073	ISL1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50574200-50576200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:50574200-50576400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:50574200-50576800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:50574200-50576800	Enhancers	Fetal Heart	heart
5	chr5:50574200-50577000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:50574200-50577000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:50574200-50577200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:50574400-50576000	Enhancers	Fetal Stomach	stomach
9	chr5:50574400-50577000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:50574400-50577000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:50574600-50576000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:50574600-50576400	Enhancers	Brain Germinal Matrix	brain
13	chr5:50574600-50576800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:50574800-50577000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:50574800-50578200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:50574800-50578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:50574800-50578400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:50575400-50576600	Enhancers	Fetal Brain Female	brain
19	chr5:50575800-50576400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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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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