Variant report

Variant	rs987534
Chromosome Location	chr8:120713652-120713653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120707984..120709744-chr8:120711269..120714120,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10108101	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs11775062	0.85[EUR][1000 genomes]
rs11778296	0.85[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs1355174	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs16893214	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17215053	0.85[ASN][1000 genomes]
rs17818097	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs17818440	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818842	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs2117217	0.85[ASN][1000 genomes]
rs60145621	0.85[ASN][1000 genomes]
rs60917006	0.85[ASN][1000 genomes]
rs62526566	0.85[EUR][1000 genomes]
rs62526601	0.83[EUR][1000 genomes]
rs6469845	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs6469856	1.00[CHB][hapmap]
rs6469858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6981251	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6987018	1.00[CHB][hapmap]
rs6987100	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6987389	1.00[JPT][hapmap]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994085	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002501	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs7007320	1.00[CHB][hapmap]
rs7007970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7837894	1.00[JPT][hapmap]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297606	0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs987534	DSCC1	cis	cerebellum	SCAN
rs987534	TAF2	cis	cerebellum	SCAN
rs987534	ZHX2	cis	parietal	SCAN
rs987534	DSCC1	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120711400-120715600	Weak transcription	Placenta	Placenta
2	chr8:120711800-120716000	Weak transcription	Esophagus	oesophagus
3	chr8:120712400-120714200	Enhancers	Fetal Muscle Leg	muscle
4	chr8:120712600-120714200	Enhancers	Adipose Nuclei	Adipose
5	chr8:120713000-120714200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120713400-120715000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:120713600-120714200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:120713600-120714600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:120713600-120714800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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