Variant report

Variant	rs73085819
Chromosome Location	chr4:8331244-8331245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1720009	1.00[EUR][1000 genomes]
rs2619302	1.00[EUR][1000 genomes]
rs28464380	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28494604	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28527236	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28545268	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34061748	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58156849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61020869	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085820	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73085821	0.81[AMR][1000 genomes]
rs73085829	0.81[AMR][1000 genomes]
rs73085831	1.00[EUR][1000 genomes]
rs73085832	1.00[AMR][1000 genomes]
rs73085836	1.00[EUR][1000 genomes]
rs73799117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73799119	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7673493	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3402175	chr4:8330602-8333400	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8325600-8338400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:8326400-8332600	Weak transcription	Spleen	Spleen
3	chr4:8326800-8331400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:8326800-8332200	Weak transcription	Right Atrium	heart
5	chr4:8327200-8332600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:8327400-8332600	Weak transcription	Esophagus	oesophagus
7	chr4:8327600-8332400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:8330400-8334200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:8330600-8332000	Enhancers	Fetal Stomach	stomach
10	chr4:8330800-8331400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:8331000-8333600	Enhancers	Fetal Muscle Leg	muscle
12	chr4:8331000-8333600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:8331000-8334200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:8331200-8331400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr4:8331200-8333200	Enhancers	Fetal Heart	heart
16	chr4:8331200-8334600	Enhancers	Right 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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