Variant report

Variant	rs13266233
Chromosome Location	chr8:11184390-11184391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11170423..11173089-chr8:11183633..11185692,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10096194	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10098322	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110557	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11250129	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11774673	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781375	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11782706	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11784458	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11784544	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11991153	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994376	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13248147	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13250270	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253016	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253735	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13263127	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1435273	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17741537	0.81[EUR][1000 genomes]
rs17797894	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060456	0.81[EUR][1000 genomes]
rs2060457	0.80[EUR][1000 genomes]
rs2060459	0.81[EUR][1000 genomes]
rs2293856	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2293858	0.81[EUR][1000 genomes]
rs3174048	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34237267	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35631424	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35747588	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3779891	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4394351	0.81[EUR][1000 genomes]
rs4413734	0.81[EUR][1000 genomes]
rs5029571	0.81[EUR][1000 genomes]
rs58283816	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62488721	0.84[EUR][1000 genomes]
rs6601580	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6985146	0.85[ASN][1000 genomes]
rs6988922	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6991606	0.81[AMR][1000 genomes]
rs6995404	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6996368	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7005469	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7008205	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7016671	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815463	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7815802	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7815804	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7816601	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7816636	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7817658	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7819395	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7820895	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7828711	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7831346	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7833966	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7834139	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7837036	0.85[ASN][1000 genomes]
rs7838897	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7839053	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971285	chr8:11181086-11184863	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13266233	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs13266233	MTMR9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11167400-11185200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11167800-11184600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:11170600-11185400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:11171600-11191400	Weak transcription	Psoas Muscle	Psoas
5	chr8:11175400-11185000	Weak transcription	Small Intestine	intestine
6	chr8:11176000-11184400	Weak transcription	K562	blood
7	chr8:11176000-11185600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:11176000-11187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11176000-11189000	Weak transcription	Gastric	stomach
10	chr8:11176600-11187000	Weak transcription	Colonic Mucosa	Colon
11	chr8:11177400-11184400	Weak transcription	NHLF	lung
12	chr8:11177800-11184400	Weak transcription	Fetal Brain Male	brain
13	chr8:11177800-11185000	Weak transcription	NH-A	brain
14	chr8:11178200-11186000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:11178200-11186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:11178600-11186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:11178800-11186200	Weak transcription	Fetal Heart	heart
18	chr8:11179000-11185400	Weak transcription	Fetal Lung	lung
19	chr8:11179400-11187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:11179600-11186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:11179800-11186400	Weak transcription	Brain Germinal Matrix	brain
22	chr8:11179800-11188000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:11180400-11185000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:11180400-11185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:11180600-11184600	Weak transcription	Brain Substantia Nigra	brain
26	chr8:11180600-11185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:11180600-11185400	Weak transcription	Brain Angular Gyrus	brain
28	chr8:11180600-11185800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:11180600-11185800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:11180600-11186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:11180600-11187000	Weak transcription	Lung	lung
32	chr8:11180600-11190200	Weak transcription	A549	lung
33	chr8:11180800-11184400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:11180800-11184400	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:11180800-11185000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:11180800-11185000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:11180800-11185400	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:11181000-11185200	Weak transcription	Placenta	Placenta
39	chr8:11181600-11186600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:11182000-11185000	Weak transcription	GM12878-XiMat	blood
41	chr8:11182200-11186600	Weak transcription	Fetal Brain Female	brain
42	chr8:11182400-11188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:11182400-11193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:11182600-11184400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:11182600-11184400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:11182600-11184400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:11182600-11184400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:11182600-11184600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:11182600-11184600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:11182600-11184600	Weak transcription	Duodenum Mucosa	Duodenum

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