Variant report

Variant	rs4568582
Chromosome Location	chr8:11160495-11160496
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11159367..11162691-chr8:11316510..11321033,4	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10096194	0.82[CEU][hapmap]
rs10098322	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs10098488	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes]
rs10099569	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10104728	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10107010	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10503418	0.81[CEU][hapmap]
rs11250127	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11775635	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782706	0.84[AFR][1000 genomes]
rs11784458	0.81[AFR][1000 genomes]
rs11784544	0.83[AFR][1000 genomes]
rs13253735	0.85[YRI][hapmap]
rs13270679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13279067	0.85[EUR][1000 genomes]
rs1347410	0.85[CEU][hapmap]
rs1435278	0.81[EUR][1000 genomes]
rs17741537	0.81[CEU][hapmap]
rs17797443	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17797894	0.82[CEU][hapmap]
rs1897950	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1897951	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2060456	0.81[CEU][hapmap]
rs2060459	0.81[CEU][hapmap]
rs2060465	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099456	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2164272	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2164273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2293855	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2293856	0.96[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2293860	0.81[CEU][hapmap]
rs2572397	0.84[CEU][hapmap]
rs2572398	0.81[CEU][hapmap]
rs2572417	0.84[CEU][hapmap]
rs2572418	0.85[CEU][hapmap]
rs2572419	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2736277	0.96[CEU][hapmap]
rs28507159	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3174048	0.87[AFR][1000 genomes]
rs35392635	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35631424	0.80[AFR][1000 genomes]
rs3779891	0.81[CEU][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs3808509	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808513	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3808518	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808519	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4413734	0.81[CEU][hapmap]
rs4559208	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840554	0.84[EUR][1000 genomes]
rs5029571	0.81[CEU][hapmap]
rs6601578	0.96[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6601579	0.85[EUR][1000 genomes]
rs6601580	0.81[AFR][1000 genomes]
rs6984759	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6985146	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6985460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6988922	0.83[AFR][1000 genomes]
rs6991074	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6991606	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7003241	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7004362	0.87[EUR][1000 genomes]
rs7005469	0.81[CEU][hapmap];0.92[YRI][hapmap]
rs7016671	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs718427	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs7815804	0.84[AFR][1000 genomes]
rs7816601	0.83[AFR][1000 genomes]
rs7816636	0.83[AFR][1000 genomes]
rs7831346	0.81[AFR][1000 genomes]
rs7833966	0.83[AFR][1000 genomes]
rs7837036	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7838897	0.92[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4568582	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs4568582	THEX1	Cis_chr	lymphoblastoid	RTeQTL
rs4568582	MTMR9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
3	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
4	chr8:11143400-11163600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
6	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11144000-11163200	Weak transcription	Right Ventricle	heart
8	chr8:11144600-11165200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:11146400-11162400	Weak transcription	Lung	lung
10	chr8:11146600-11162400	Weak transcription	Gastric	stomach
11	chr8:11146600-11163600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:11146800-11162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:11146800-11166200	Weak transcription	Spleen	Spleen
14	chr8:11147600-11162400	Weak transcription	Brain Substantia Nigra	brain
15	chr8:11147600-11165800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:11147600-11166400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11149800-11162200	Weak transcription	Stomach Mucosa	stomach
18	chr8:11150200-11162400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:11150800-11169800	Weak transcription	Small Intestine	intestine
20	chr8:11152000-11168200	Weak transcription	Fetal Heart	heart
21	chr8:11152000-11169800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:11152400-11161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:11152800-11161000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:11152800-11161000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:11153000-11160800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:11153400-11165400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:11154000-11162200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:11154000-11164000	Weak transcription	Fetal Brain Male	brain
29	chr8:11154000-11166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr8:11154000-11167000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:11154200-11160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:11154200-11161200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:11154200-11162000	Weak transcription	Psoas Muscle	Psoas
34	chr8:11154200-11162400	Weak transcription	Left Ventricle	heart
35	chr8:11154200-11162400	Weak transcription	NHLF	lung
36	chr8:11154200-11162800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:11154200-11163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:11154200-11163000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:11154200-11163400	Weak transcription	Fetal Brain Female	brain
40	chr8:11154200-11163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:11154200-11163600	Weak transcription	Thymus	Thymus
42	chr8:11154200-11163800	Weak transcription	Fetal Kidney	kidney
43	chr8:11154200-11165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:11154200-11166400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:11154200-11166400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr8:11154200-11181400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:11154200-11183800	Strong transcription	Liver	Liver
48	chr8:11154400-11162400	Weak transcription	Brain Anterior Caudate	brain
49	chr8:11154600-11183000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:11154800-11160800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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