Variant report

Variant	rs2069910
Chromosome Location	chr2:128177974-128177975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1568277	0.81[ASN][1000 genomes]
rs2069915	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2069918	0.91[ASN][1000 genomes]
rs2069920	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67495946	0.81[ASN][1000 genomes]
rs6761391	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583036	chr2:128173819-128183914	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875013	chr2:128177974-128183145	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2069910	ERCC3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128174000-128180600	Weak transcription	Right Atrium	heart
2	chr2:128174800-128180400	Weak transcription	Spleen	Spleen
3	chr2:128175000-128180000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:128176200-128178000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:128176200-128179800	Weak transcription	Dnd41	blood
6	chr2:128176400-128180400	Weak transcription	Pancreas	Pancrea
7	chr2:128176800-128179800	Weak transcription	Gastric	stomach
8	chr2:128177000-128178000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr2:128177000-128178400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr2:128177200-128178000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:128177200-128178000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:128177400-128178600	Transcr. at gene 5' and 3'	HepG2	liver
13	chr2:128177600-128178200	Flanking Active TSS	Liver	Liver
14	chr2:128177800-128179800	Enhancers	Fetal Thymus	thymus
15	chr2:128177800-128180600	Weak transcription	A549	lung

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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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