Variant report

Variant	rs7547418
Chromosome Location	chr1:166276000-166276001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10918421	0.93[EUR][1000 genomes]
rs12091733	0.82[ASN][1000 genomes]
rs16856811	0.82[ASN][1000 genomes]
rs1891725	0.93[EUR][1000 genomes]
rs3813991	0.82[ASN][1000 genomes]
rs4068928	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7525163	0.81[EUR][1000 genomes]
rs7536144	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv519423	chr1:166276000-166297851	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7547418	C1orf192	cis	cerebellum	SCAN
rs7547418	ILDR2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166270200-166277200	Weak transcription	Psoas Muscle	Psoas
2	chr1:166272800-166276200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:166272800-166276400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:166272800-166276600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:166273600-166276400	Weak transcription	Fetal Heart	heart
6	chr1:166274400-166277600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:166275400-166277400	Weak transcription	Left Ventricle	heart
8	chr1:166275400-166277400	Weak transcription	Right Atrium	heart

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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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