Variant report

Variant	rs73325451
Chromosome Location	chr8:120055284-120055285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11573877	1.00[AMR][1000 genomes]
rs11573902	1.00[AMR][1000 genomes]
rs56812049	1.00[AMR][1000 genomes]
rs57160658	1.00[AMR][1000 genomes]
rs59007607	1.00[AMR][1000 genomes]
rs73312837	1.00[AMR][1000 genomes]
rs73315539	1.00[AMR][1000 genomes]
rs73315548	1.00[AMR][1000 genomes]
rs73315570	1.00[AMR][1000 genomes]
rs73317506	1.00[AMR][1000 genomes]
rs73319638	1.00[AMR][1000 genomes]
rs73321801	1.00[AMR][1000 genomes]
rs73325462	1.00[AMR][1000 genomes]
rs73325464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325500	1.00[AMR][1000 genomes]
rs73327207	1.00[AMR][1000 genomes]
rs73327265	1.00[AMR][1000 genomes]
rs73709556	1.00[AMR][1000 genomes]
rs7818753	1.00[AMR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120054800-120055400	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr8:120054800-120055800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:120054800-120055800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:120054800-120055800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:120054800-120056200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:120054800-120056200	Enhancers	GM12878-XiMat	blood
7	chr8:120054800-120056400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:120054800-120056600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:120054800-120066400	Enhancers	Hela-S3	cervix
10	chr8:120055000-120055800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:120055000-120055800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:120055000-120056200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:120055200-120055400	Flanking Active TSS	HUVEC	blood vessel
14	chr8:120055200-120055800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:120055200-120056200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:120055200-120056200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:120055200-120056600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:120055200-120056600	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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