Variant report

Variant	rs11784572
Chromosome Location	chr8:11174484-11174485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1047950	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10481454	1.00[CHB][hapmap]
rs10503420	1.00[JPT][hapmap]
rs11250131	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11774569	1.00[CHB][hapmap]
rs12676062	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12676613	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12681987	0.89[ASW][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap]
rs13260727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1435277	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[YRI][hapmap];0.87[ASN][1000 genomes]
rs1435282	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1560971	1.00[CHB][hapmap]
rs17153118	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2246606	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2249804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2250028	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2251473	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2409756	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572382	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572385	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs2572386	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2572397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2572398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2572404	0.87[ASN][1000 genomes]
rs2736264	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2736270	0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs2736273	0.87[ASN][1000 genomes]
rs2736290	1.00[JPT][hapmap]
rs2736292	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2736295	1.00[JPT][hapmap]
rs2736311	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35418978	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4841525	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6601585	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7832747	1.00[JPT][hapmap]
rs7839307	0.87[ASN][1000 genomes]
rs978149	0.85[CEU][hapmap];0.82[TSI][hapmap];0.82[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised 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	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11784572	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs11784572	FLJ10661	cis	cerebellum	SCAN
rs11784572	TDH	cis	cerebellum	SCAN
rs11784572	C8orf48	cis	cerebellum	SCAN
rs11784572	FDFT1	cis	parietal	SCAN
rs11784572	CLDN23	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11154200-11181400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:11154200-11183800	Strong transcription	Liver	Liver
3	chr8:11154600-11183000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr8:11155000-11184000	Strong transcription	Dnd41	blood
5	chr8:11155600-11183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11157200-11180800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:11157400-11182600	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:11157600-11183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:11160000-11176200	Strong transcription	Fetal Thymus	thymus
10	chr8:11160600-11176200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:11160600-11176200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:11160600-11178800	Strong transcription	Fetal Intestine Large	intestine
13	chr8:11161600-11183200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:11161800-11182600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:11162000-11180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:11162000-11181200	Strong transcription	HSMM	muscle
17	chr8:11162000-11182600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr8:11162000-11183400	Strong transcription	Primary T cells from cord blood	blood
19	chr8:11162200-11176200	Strong transcription	Primary B cells from cord blood	blood
20	chr8:11162200-11180600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:11162200-11181000	Strong transcription	Placenta	Placenta
22	chr8:11162200-11181600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr8:11162200-11183200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:11162400-11176000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr8:11162400-11176000	Strong transcription	Brain Anterior Caudate	brain
26	chr8:11162400-11176200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr8:11162400-11179200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:11162400-11179600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:11162400-11180600	Strong transcription	Left Ventricle	heart
30	chr8:11162400-11180800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:11162400-11182600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:11162400-11183000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr8:11162400-11183000	Strong transcription	Adipose Nuclei	Adipose
34	chr8:11162400-11183200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:11162400-11183600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:11162400-11183800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:11162400-11184000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:11162400-11184000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr8:11162400-11184200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:11162600-11182800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:11162600-11184000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:11162800-11176000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:11163000-11176000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:11164600-11178800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:11165400-11176200	Strong transcription	Brain Hippocampus Middle	brain
46	chr8:11165400-11181200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:11165600-11176000	Strong transcription	Brain Cingulate Gyrus	brain
48	chr8:11165800-11176000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr8:11165800-11176000	Strong transcription	A549	lung
50	chr8:11166000-11176000	Strong transcription	K562	blood

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