Variant report

Variant	rs8068205
Chromosome Location	chr17:50529140-50529141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1424319	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874119	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350009	0.80[ASN][1000 genomes]
rs8080974	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv528447	chr17:50323521-51118173	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1057173	chr17:50448593-50808216	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv833483	chr17:50475617-50652500	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1065519	chr17:50494829-50585822	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1060938	chr17:50505879-50586093	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv908612	chr17:50506926-50720233	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1058388	chr17:50507515-50666045	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1055580	chr17:50507769-50650719	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv527898	chr17:50514419-50663355	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50528200-50529600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr17:50528400-50529400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr17:50528400-50529600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr17:50528400-50529600	Enhancers	Brain Germinal Matrix	brain
5	chr17:50528400-50531600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr17:50528600-50529200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:50528600-50529400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr17:50528600-50529600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr17:50528800-50529200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr17:50528800-50529400	ZNF genes & repeats	HUES64 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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