Variant report

Variant	rs4075834
Chromosome Location	chr8:95833747-95833748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:95833740-95833890	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95832903..95835069-chr8:96279436..96281747,2	MCF-7	breast:
2	chr8:95833077..95835963-chr8:95876251..95878917,2	K562	blood:
3	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
4	chr8:95826436..95828535-chr8:95832884..95835049,2	K562	blood:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000164941	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000156172	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10504939	1.00[JPT][hapmap]
rs10956927	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776687	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777132	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778553	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11779041	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779252	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779282	0.82[AMR][1000 genomes]
rs11779698	1.00[JPT][hapmap]
rs11781099	0.93[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781757	1.00[JPT][hapmap]
rs11781843	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11782818	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11783522	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783878	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11783941	1.00[JPT][hapmap]
rs11784299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786021	0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[ASN][1000 genomes]
rs11786088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786389	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786429	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787442	0.93[ASN][1000 genomes]
rs12056517	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250762	1.00[JPT][hapmap]
rs16893774	0.88[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16917079	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917082	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs16917106	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs16917117	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17359493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665737	1.00[JPT][hapmap]
rs28399553	0.85[ASW][hapmap];0.82[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28399571	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2904889	0.82[AMR][1000 genomes]
rs3802191	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4073916	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4345531	1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773845	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489999	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58675831	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59091366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986418	0.82[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009940	1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs716733	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269188	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269199	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73271178	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.85[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4075834	INTS8	Cis_1M	lymphoblastoid	RTeQTL
rs4075834	INTS8	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95827600-95834000	Weak transcription	HepG2	liver
2	chr8:95829200-95834800	Weak transcription	Right Atrium	heart
3	chr8:95831800-95834000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:95831800-95834400	Weak transcription	A549	lung
5	chr8:95831800-95834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95832000-95834600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:95832200-95834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:95832400-95834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:95832600-95834600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:95833600-95833800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:95833600-95834200	Enhancers	K562	blood
12	chr8:95833600-95834400	Enhancers	Dnd41	blood

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