Variant report

Variant	rs11780285
Chromosome Location	chr8:86391547-86391548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86386280..86387988-chr8:86390083..86392825,2	K562	blood:
2	chr14:35459374..35461110-chr8:86390877..86393712,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10088136	0.92[ASN][1000 genomes]
rs10095352	0.81[ASN][1000 genomes]
rs10111039	0.84[ASN][1000 genomes]
rs10504812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504813	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10907474	0.95[ASN][1000 genomes]
rs13255540	0.80[ASN][1000 genomes]
rs1389245	0.81[ASN][1000 genomes]
rs1389247	0.81[ASN][1000 genomes]
rs1496526	0.80[EUR][1000 genomes]
rs168600	0.80[ASN][1000 genomes]
rs1845253	0.98[ASN][1000 genomes]
rs2055077	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2072696	0.81[AMR][1000 genomes]
rs2307075	0.84[ASN][1000 genomes]
rs2403105	0.80[ASN][1000 genomes]
rs2645047	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2645049	0.80[EUR][1000 genomes]
rs2645053	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3087782	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs359534	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs359535	0.80[ASN][1000 genomes]
rs3758076	0.81[ASN][1000 genomes]
rs3758077	0.81[ASN][1000 genomes]
rs3758078	0.97[ASN][1000 genomes]
rs4566	0.80[ASN][1000 genomes]
rs55641432	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55929157	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58958691	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66498753	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67824746	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988475	0.84[ASN][1000 genomes]
rs7016369	0.95[ASN][1000 genomes]
rs703	0.95[ASN][1000 genomes]
rs713488	0.81[ASN][1000 genomes]
rs713489	0.81[ASN][1000 genomes]
rs7386162	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286249	0.84[ASN][1000 genomes]
rs931505	0.80[ASN][1000 genomes]
rs9329911	0.91[ASN][1000 genomes]
rs955007	0.81[ASN][1000 genomes]
rs9969643	0.80[ASN][1000 genomes]
rs999466	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11780285	C8orf59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
3	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
5	chr8:86378000-86392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:86378000-86392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:86379000-86393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:86380400-86394800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:86384200-86393200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:86384200-86393400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:86384200-86393400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:86384400-86393600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:86384600-86393000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:86385000-86393400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr8:86385200-86391800	Genic enhancers	Brain Hippocampus Middle	brain
17	chr8:86385200-86393600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:86385600-86393400	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:86385600-86393400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:86386000-86392000	Genic enhancers	Brain Substantia Nigra	brain
21	chr8:86386000-86393400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr8:86386600-86393000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:86386600-86393200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:86386600-86393400	Strong transcription	Liver	Liver
25	chr8:86387000-86393400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:86387000-86393400	Strong transcription	Left Ventricle	heart
27	chr8:86387000-86395200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:86387200-86393600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:86387200-86395400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:86387400-86391600	Weak transcription	Placenta	Placenta
32	chr8:86387600-86391800	Strong transcription	NHEK	skin
33	chr8:86387600-86393200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:86387600-86393800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:86388000-86393400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:86388200-86393400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:86388400-86393400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:86388600-86393400	Strong transcription	Brain Angular Gyrus	brain
39	chr8:86388800-86392800	Weak transcription	Primary T cells from cord blood	blood
40	chr8:86388800-86393400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:86389400-86391800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:86389400-86393200	Strong transcription	Colonic Mucosa	Colon
43	chr8:86389400-86393400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:86389400-86393400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:86389600-86402400	Weak transcription	Pancreas	Pancrea
46	chr8:86389800-86393400	Strong transcription	Fetal Lung	lung
47	chr8:86390200-86392000	Genic enhancers	Brain Cingulate Gyrus	brain
48	chr8:86390400-86395200	Weak transcription	Primary B cells from cord blood	blood
49	chr8:86390400-86403400	Weak transcription	Stomach Mucosa	stomach
50	chr8:86390600-86395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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