Variant report

Variant	rs73342518
Chromosome Location	chr8:113684993-113684994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11996353	0.81[AFR][1000 genomes]
rs60598285	1.00[AMR][1000 genomes]
rs73342525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73342544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113682400-113685200	Enhancers	HMEC	breast
2	chr8:113683800-113688600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:113684200-113685400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:113684200-113686000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:113684200-113688000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:113684200-113688000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:113684400-113685200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:113684400-113685600	Flanking Active TSS	NHEK	skin
9	chr8:113684400-113686400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:113684600-113685200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:113684600-113685400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:113684600-113687600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:113684600-113688200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:113684600-113688400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:113684600-113690200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:113684800-113685000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:113684800-113686000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:113684800-113687200	Enhancers	iPS-18 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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