Variant report

Variant	rs9329911
Chromosome Location	chr8:86407520-86407521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86404163..86406491-chr8:86406532..86408170,2	MCF-7	breast:
2	chr8:86406517..86409106-chr8:86411209..86414222,3	MCF-7	breast:
3	chr8:86403779..86406429-chr8:86407390..86409709,2	MCF-7	breast:
4	chr8:86405383..86408114-chr8:86416707..86418781,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10088136	0.85[ASN][1000 genomes]
rs10095352	0.83[CHB][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs10504812	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[ASN][1000 genomes]
rs10504813	0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs10907474	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap];0.88[ASN][1000 genomes]
rs11261474	0.84[ASW][hapmap]
rs11780285	0.91[ASN][1000 genomes]
rs11985733	1.00[ASW][hapmap]
rs1493302	0.81[CHB][hapmap]
rs168600	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs17042	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[YRI][hapmap]
rs1845253	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055077	0.95[CHB][hapmap];0.95[CHD][hapmap]
rs2072696	0.90[CHB][hapmap]
rs2307075	1.00[ASW][hapmap];0.83[CHB][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs2548281	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs2645049	0.86[CHB][hapmap];0.88[CHD][hapmap]
rs3087782	0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs359534	0.85[ASN][1000 genomes]
rs359535	0.89[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs3758076	0.83[CHB][hapmap]
rs3758077	0.84[AFR][1000 genomes]
rs3758078	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4566	1.00[ASW][hapmap];0.85[LWK][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes]
rs4740053	0.81[CEU][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs55641432	0.87[ASN][1000 genomes]
rs55929157	0.87[ASN][1000 genomes]
rs58958691	0.91[ASN][1000 genomes]
rs67824746	0.87[ASN][1000 genomes]
rs6988475	0.83[CHB][hapmap]
rs7016369	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.84[TSI][hapmap];0.88[ASN][1000 genomes]
rs703	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7386162	0.91[ASN][1000 genomes]
rs9286249	0.86[AFR][1000 genomes]
rs931505	0.85[CEU][hapmap];0.95[CHB][hapmap]
rs955007	0.81[AFR][1000 genomes]
rs9969643	1.00[ASW][hapmap];0.85[LWK][hapmap];0.94[YRI][hapmap]
rs999466	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1023965	chr8:86405135-86452164	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1807380	chr8:86405478-86886412	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv1829254	chr8:86405478-86886412	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1831796	chr8:86405478-86886412	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv525974	chr8:86407520-86415959	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9329911	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs9329911	C8orf59	cis	cerebellum	SCAN
rs9329911	C8orf59	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86401800-86408200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:86401800-86413400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:86401800-86414200	Weak transcription	Fetal Lung	lung
4	chr8:86402000-86414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:86402600-86414600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:86404000-86413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:86404400-86407600	Weak transcription	Liver	Liver
8	chr8:86405200-86410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:86406200-86413400	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:86407000-86408200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:86407000-86408400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:86407000-86408400	Enhancers	HMEC	breast
13	chr8:86407000-86408600	Enhancers	NHEK	skin
14	chr8:86407400-86408000	Enhancers	GM12878-XiMat	blood
15	chr8:86407400-86408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:86407400-86408800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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