Variant report

Variant	rs4551573
Chromosome Location	chr1:166352194-166352195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10800223	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10918447	0.81[EUR][1000 genomes]
rs3936117	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6662390	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7526715	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546670	0.88[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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4551573	ILDR2	cis	cerebellum	SCAN
rs4551573	SFT2D2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166343800-166354200	Weak transcription	Right Atrium	heart
2	chr1:166348200-166352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:166348200-166354200	Weak transcription	Left Ventricle	heart
4	chr1:166348800-166353000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:166349200-166352200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:166349200-166352400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:166349400-166354200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:166351800-166352200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:166352000-166352600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:166352000-166353400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:166352000-166360200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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