Variant report

Variant	rs10000485
Chromosome Location	chr4:80276869-80276870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10004440	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050068	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733010	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1484148	0.97[EUR][1000 genomes]
rs1484149	0.97[EUR][1000 genomes]
rs1601201	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1601202	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17003721	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28432328	0.97[EUR][1000 genomes]
rs28516921	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28619382	0.98[EUR][1000 genomes]
rs28704148	0.98[EUR][1000 genomes]
rs28796992	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903619	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4975046	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4975085	0.95[EUR][1000 genomes]
rs6818904	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823996	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992718	0.97[EUR][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	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv999174	chr4:80212935-80512356	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv980223	chr4:80259303-80276903	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3427729	chr4:80274284-80276883	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3432913	chr4:80274683-80416584	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80274800-80278400	Weak transcription	Fetal Lung	lung
2	chr4:80274800-80278600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:80274800-80280200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:80274800-80280800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:80274800-80282600	Weak transcription	Fetal Brain Male	brain
6	chr4:80274800-80287000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:80275200-80288000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:80276800-80277200	Active TSS	Placenta	Placenta

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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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