Variant report

Variant	rs11777530
Chromosome Location	chr8:86389071-86389072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1021457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021458	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780942	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265202	1.00[ASN][1000 genomes]
rs13274009	1.00[ASN][1000 genomes]
rs1389246	1.00[ASN][1000 genomes]
rs1472200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493301	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741410	1.00[ASN][1000 genomes]
rs17814075	1.00[ASN][1000 genomes]
rs17814183	1.00[ASN][1000 genomes]
rs17814255	1.00[ASN][1000 genomes]
rs17814594	1.00[ASN][1000 genomes]
rs1979694	1.00[ASN][1000 genomes]
rs2101706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466764	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645050	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2725292	0.84[CEU][hapmap];0.84[GIH][hapmap]
rs2725295	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2725296	0.84[CEU][hapmap]
rs359523	1.00[ASN][1000 genomes]
rs359526	1.00[ASN][1000 genomes]
rs359530	1.00[ASN][1000 genomes]
rs359536	1.00[ASN][1000 genomes]
rs36054079	1.00[ASN][1000 genomes]
rs370167	1.00[ASN][1000 genomes]
rs384656	1.00[ASN][1000 genomes]
rs385064	1.00[ASN][1000 genomes]
rs393828	1.00[ASN][1000 genomes]
rs395964	1.00[ASN][1000 genomes]
rs404123	1.00[ASN][1000 genomes]
rs406858	1.00[ASN][1000 genomes]
rs407320	1.00[ASN][1000 genomes]
rs411276	1.00[ASN][1000 genomes]
rs413449	1.00[ASN][1000 genomes]
rs414354	1.00[ASN][1000 genomes]
rs414922	1.00[ASN][1000 genomes]
rs415199	1.00[ASN][1000 genomes]
rs422914	1.00[ASN][1000 genomes]
rs427285	1.00[ASN][1000 genomes]
rs435449	0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs438730	1.00[ASN][1000 genomes]
rs443177	1.00[ASN][1000 genomes]
rs447131	1.00[ASN][1000 genomes]
rs4740052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698727	1.00[ASN][1000 genomes]
rs62512497	1.00[ASN][1000 genomes]
rs62512498	1.00[ASN][1000 genomes]
rs62527224	1.00[ASN][1000 genomes]
rs650498	1.00[ASN][1000 genomes]
rs6605618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6605621	1.00[ASN][1000 genomes]
rs663323	1.00[ASN][1000 genomes]
rs6984702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990339	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994366	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999266	1.00[ASN][1000 genomes]
rs7817747	1.00[ASN][1000 genomes]
rs7823943	1.00[ASN][1000 genomes]
rs7844166	1.00[ASN][1000 genomes]
rs981495	0.85[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
rs11777530	C8orf59	cis	parietal	SCAN

Chromatin state (count:67 , 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	chr8:86377600-86390800	Weak transcription	Right Ventricle	heart
3	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
4	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
6	chr8:86377800-86390200	Weak transcription	HMEC	breast
7	chr8:86378000-86392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:86378000-86392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:86378200-86389400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:86378200-86390600	Weak transcription	Brain Germinal Matrix	brain
12	chr8:86379000-86393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:86380400-86394800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:86380600-86389400	Weak transcription	Colonic Mucosa	Colon
15	chr8:86381000-86389200	Weak transcription	Gastric	stomach
16	chr8:86381000-86389200	Weak transcription	Pancreas	Pancrea
17	chr8:86384200-86393200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:86384200-86393400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:86384200-86393400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:86384400-86393600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:86384600-86390200	Weak transcription	Fetal Intestine Small	intestine
22	chr8:86384600-86393000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:86385000-86391400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:86385000-86393400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr8:86385200-86391800	Genic enhancers	Brain Hippocampus Middle	brain
26	chr8:86385200-86393600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:86385600-86393400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:86385600-86393400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:86385800-86390200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:86386000-86392000	Genic enhancers	Brain Substantia Nigra	brain
31	chr8:86386000-86393400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr8:86386400-86389400	Weak transcription	Primary B cells from cord blood	blood
33	chr8:86386600-86393000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:86386600-86393200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:86386600-86393400	Strong transcription	Liver	Liver
36	chr8:86387000-86389400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:86387000-86393400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:86387000-86393400	Strong transcription	Left Ventricle	heart
39	chr8:86387000-86395200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:86387200-86390800	Weak transcription	Fetal Kidney	kidney
41	chr8:86387200-86393600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:86387200-86395400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:86387200-86403600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:86387400-86389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:86387400-86391000	Strong transcription	Brain Anterior Caudate	brain
46	chr8:86387400-86391600	Weak transcription	Placenta	Placenta
47	chr8:86387600-86389400	Weak transcription	Stomach Mucosa	stomach
48	chr8:86387600-86391000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:86387600-86391200	Weak transcription	Esophagus	oesophagus
50	chr8:86387600-86391800	Strong transcription	NHEK	skin

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