Variant report

Variant	rs773573
Chromosome Location	chr1:113818120-113818121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1088716	0.89[ASN][1000 genomes]
rs1418605	0.84[ASN][1000 genomes]
rs2763874	0.89[ASN][1000 genomes]
rs773572	0.95[ASN][1000 genomes]
rs773574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773607	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773608	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs773609	0.89[ASN][1000 genomes]
rs773610	0.89[ASN][1000 genomes]
rs773614	0.84[ASN][1000 genomes]
rs796471	0.89[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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs773573	WDR77	cis	parietal	SCAN
rs773573	DENND2C	cis	parietal	SCAN
rs773573	FAM40A	cis	cerebellum	SCAN
rs773573	CHI3L2	cis	parietal	SCAN
rs773573	NRAS	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113799400-113824200	Weak transcription	Fetal Kidney	kidney
2	chr1:113814600-113822600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:113814800-113822000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:113814800-113822400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:113815800-113823800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:113817600-113818200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:113817600-113820200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:113817800-113819400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:113817800-113820200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:113817800-113820200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:113818000-113819600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:113818000-113820200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:113818000-113820200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:113818000-113820200	Enhancers	K562	blood

Quick Search:

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

what's new

Quick links