Variant report

Variant	rs17000658
Chromosome Location	chr4:76487438-76487439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10034359	0.84[CHB][hapmap]
rs11729286	0.81[CHB][hapmap]
rs11729290	0.85[CHB][hapmap]
rs13119499	0.85[CHB][hapmap]
rs13136001	0.85[CHB][hapmap]
rs17000637	0.84[CHB][hapmap]
rs2014464	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7691379	0.85[CHB][hapmap]
rs9998529	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17000658	THAP6	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76485000-76487600	Enhancers	Placenta	Placenta
2	chr4:76486800-76487600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:76486800-76487600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:76486800-76487600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:76487000-76487600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:76487000-76487600	Enhancers	HMEC	breast
7	chr4:76487000-76487600	Enhancers	NHEK	skin
8	chr4:76487200-76487600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:76487200-76488200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:76487400-76487600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:76487400-76489200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:76487400-76498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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