Variant report

Variant	rs7623820
Chromosome Location	chr3:34822886-34822887
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1316252	0.83[AFR][1000 genomes]
rs1522966	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916227	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs44338	0.83[ASN][1000 genomes]
rs475330	0.83[ASN][1000 genomes]
rs490563	0.82[ASN][1000 genomes]
rs511922	0.83[ASN][1000 genomes]
rs523378	0.83[ASN][1000 genomes]
rs523810	0.83[ASN][1000 genomes]
rs525673	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs539992	0.86[ASN][1000 genomes]
rs554650	0.83[ASN][1000 genomes]
rs575331	0.84[ASN][1000 genomes]
rs589922	0.84[ASN][1000 genomes]
rs605270	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684871	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73055987	0.82[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	nsv834654	chr3:34747802-34916657	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834655	chr3:34752929-34898824	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3415700	chr3:34806371-34914306	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7623820	MLH1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34818000-34824200	Weak transcription	Aorta	Aorta
2	chr3:34821800-34823200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:34822800-34823000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:34822800-34823000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:34822800-34823200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:34822800-34823200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:34822800-34823400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:34822800-34823800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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