Variant report

Variant	rs17003952
Chromosome Location	chr4:80468723-80468724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10028776	0.84[EUR][1000 genomes]
rs11933208	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935255	1.00[GIH][hapmap]
rs11939238	1.00[EUR][1000 genomes]
rs11943366	1.00[EUR][1000 genomes]
rs12108416	0.95[EUR][1000 genomes]
rs1595964	1.00[EUR][1000 genomes]
rs17003761	1.00[EUR][1000 genomes]
rs17003907	1.00[EUR][1000 genomes]
rs3906810	0.84[EUR][1000 genomes]
rs4513593	1.00[EUR][1000 genomes]
rs58883855	0.89[EUR][1000 genomes]
rs61111325	1.00[EUR][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	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
2	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879507	chr4:80365765-80552199	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879508	chr4:80398708-80552199	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv829980	chr4:80442108-80468775	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:80465000-80478200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:80467600-80485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:80468200-80468800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr4:80468200-80469200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr4:80468400-80469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:80468400-80470000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:80468400-80471800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:80468600-80469400	Enhancers	iPS-15b 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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