Variant report

Variant	rs3808513
Chromosome Location	chr8:11157460-11157461
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11141304..11143263-chr8:11157306..11158829,2	MCF-7	breast:
2	chr8:11147995..11150025-chr8:11154798..11157623,2	K562	blood:
3	chr8:11157442..11159711-chr8:11161841..11164458,2	K562	blood:
4	chr8:11148525..11151324-chr8:11155864..11158358,3	K562	blood:

Variant related genes	Relation type
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10096194	0.82[CEU][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap]
rs10098322	1.00[ASW][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs10098488	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs10099569	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10104728	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10107010	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10110557	0.88[JPT][hapmap];0.92[YRI][hapmap]
rs10503418	0.81[CEU][hapmap];0.83[TSI][hapmap]
rs10503421	0.82[CEU][hapmap]
rs11250127	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11250129	0.84[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap]
rs11774673	0.81[AFR][1000 genomes]
rs11775635	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11782706	0.81[AFR][1000 genomes]
rs13253735	0.86[LWK][hapmap];0.92[YRI][hapmap]
rs13270679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13279067	0.86[EUR][1000 genomes]
rs1347410	0.84[CEU][hapmap]
rs1435278	0.82[EUR][1000 genomes]
rs17741537	0.82[CEU][hapmap]
rs17797443	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17797894	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1897950	1.00[CEU][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1897951	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2060456	0.82[CEU][hapmap]
rs2060459	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs2060465	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2099456	0.92[CEU][hapmap];0.82[GIH][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs2164272	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2164273	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2293855	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2293856	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2293860	0.82[CEU][hapmap]
rs2572397	0.85[CEU][hapmap]
rs2572398	0.84[CEU][hapmap]
rs2572417	0.84[CEU][hapmap]
rs2572418	0.84[CEU][hapmap]
rs2572419	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2736277	0.96[CEU][hapmap];0.84[GIH][hapmap]
rs28507159	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3174048	0.84[AFR][1000 genomes]
rs35392635	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3779891	1.00[ASW][hapmap];0.82[CEU][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3808509	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3808518	1.00[ASW][hapmap];0.92[CEU][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3808519	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4413734	0.82[CEU][hapmap]
rs4559208	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4568582	1.00[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4840554	0.85[EUR][1000 genomes]
rs5029571	0.82[CEU][hapmap]
rs58283816	0.81[AFR][1000 genomes]
rs6601578	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6601579	0.86[EUR][1000 genomes]
rs6984759	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6985146	0.81[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6985460	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6988922	0.80[AFR][1000 genomes]
rs6991074	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6991606	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6995404	0.85[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap]
rs7003241	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7004362	0.88[EUR][1000 genomes]
rs7005469	0.81[CEU][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs7016671	1.00[ASW][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs718427	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs765731	0.81[EUR][1000 genomes]
rs7815804	0.81[AFR][1000 genomes]
rs7819395	0.80[JPT][hapmap]
rs7837036	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7838897	0.94[JPT][hapmap];1.00[YRI][hapmap]
rs7839053	0.88[JPT][hapmap];0.91[YRI][hapmap]

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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3808513	FLJ10661	cis	cerebellum	SCAN
rs3808513	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs3808513	THEX1	Cis_chr	lymphoblastoid	RTeQTL
rs3808513	PRSS55	cis	cerebellum	SCAN
rs3808513	TDH	cis	cerebellum	SCAN
rs3808513	C8orf48	cis	cerebellum	SCAN
rs3808513	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs3808513	TDH	cis	parietal	SCAN

Chromatin state (count:122 , 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	chr8:11150000-11159400	Weak transcription	Aorta	Aorta
19	chr8:11150200-11162400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:11150800-11169800	Weak transcription	Small Intestine	intestine
21	chr8:11152000-11168200	Weak transcription	Fetal Heart	heart
22	chr8:11152000-11169800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:11152400-11161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr8:11152600-11159600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:11152800-11157600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:11152800-11159600	Strong transcription	Adipose Nuclei	Adipose
27	chr8:11152800-11161000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:11152800-11161000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:11153000-11160800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:11153200-11158000	Strong transcription	Fetal Intestine Large	intestine
31	chr8:11153200-11159200	Strong transcription	Fetal Thymus	thymus
32	chr8:11153400-11159000	Strong transcription	HSMM	muscle
33	chr8:11153400-11165400	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:11154000-11162200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:11154000-11164000	Weak transcription	Fetal Brain Male	brain
36	chr8:11154000-11166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:11154000-11167000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:11154200-11157600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:11154200-11158800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:11154200-11160800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:11154200-11161200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:11154200-11162000	Weak transcription	Psoas Muscle	Psoas
43	chr8:11154200-11162400	Weak transcription	Left Ventricle	heart
44	chr8:11154200-11162400	Weak transcription	NHLF	lung
45	chr8:11154200-11162800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:11154200-11163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:11154200-11163000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:11154200-11163400	Weak transcription	Fetal Brain Female	brain
49	chr8:11154200-11163600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:11154200-11163600	Weak transcription	Thymus	Thymus

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