Variant report

Variant	rs73203483
Chromosome Location	chr8:11563525-11563526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10088151	0.93[ASN][1000 genomes]
rs11777611	0.94[ASN][1000 genomes]
rs11781500	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2409813	0.86[ASN][1000 genomes]
rs28473684	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28530664	0.89[ASN][1000 genomes]
rs34888744	0.98[ASN][1000 genomes]
rs35813172	0.98[ASN][1000 genomes]
rs4269498	0.96[ASN][1000 genomes]
rs4489290	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61277615	0.84[ASN][1000 genomes]
rs62489319	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990313	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7817412	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837066	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
3	chr8:11560800-11564000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11561200-11565400	Active TSS	Ovary	ovary
5	chr8:11561400-11563800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr8:11561800-11565400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:11563000-11563600	ZNF genes & repeats	Fetal Heart	heart
10	chr8:11563000-11565000	Flanking Active TSS	Liver	Liver
11	chr8:11563200-11563600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr8:11563200-11563600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:11563200-11563800	Active TSS	Stomach Mucosa	stomach
14	chr8:11563200-11564200	Weak transcription	Pancreas	Pancrea
15	chr8:11563200-11564400	Active TSS	HepG2	liver
16	chr8:11563200-11565000	Weak transcription	Gastric	stomach
17	chr8:11563200-11565800	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:11563400-11564200	Weak transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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