Variant report

Variant	rs565318
Chromosome Location	chr7:83303684-83303685
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:9)

rs_ID	r²[population]
rs13240489	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241394	0.84[EUR][1000 genomes]
rs17457932	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702049	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35961556	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62475082	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62475083	0.88[EUR][1000 genomes]
rs62475085	0.86[EUR][1000 genomes]
rs659632	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][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	nsv1017248	chr7:83189888-83385765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2753501	chr7:83250118-83336854	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017237	chr7:83262951-83423389	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758122	chr7:83300506-83460112	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759541	chr7:83300506-83460112	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83299000-83304400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:83301600-83313400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:83301800-83303800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:83302000-83304200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:83302000-83304400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:83302000-83304800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:83302000-83305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:83302000-83306400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:83302200-83304000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:83302200-83306600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:83303000-83305600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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