Variant report

Variant	rs11784312
Chromosome Location	chr8:10872767-10872768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10867872..10870530-chr8:10872109..10874885,2	K562	blood:
2	chr8:10861649..10864572-chr8:10871901..10875246,3	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10091913	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10100449	1.00[CHB][hapmap]
rs10107384	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10108304	1.00[CHB][hapmap]
rs10110123	1.00[CHB][hapmap]
rs10111751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10216472	0.87[CEU][hapmap];0.96[EUR][1000 genomes]
rs10217059	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10282848	1.00[CHB][hapmap]
rs11250103	0.91[CEU][hapmap]
rs11250108	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11250111	1.00[CHB][hapmap]
rs11250120	1.00[CHB][hapmap]
rs11779199	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11986748	1.00[CHB][hapmap]
rs11988372	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11991121	1.00[CHB][hapmap]
rs11995682	0.94[EUR][1000 genomes]
rs11996027	1.00[CHB][hapmap]
rs11998417	1.00[CHB][hapmap]
rs12216757	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12216784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12216875	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17152862	1.00[CHB][hapmap]
rs17152881	1.00[CHB][hapmap]
rs17152921	1.00[CHB][hapmap]
rs17152930	1.00[CHB][hapmap]
rs17152938	1.00[CHB][hapmap]
rs17152978	1.00[CHB][hapmap]
rs17722940	1.00[CHB][hapmap]
rs17725809	1.00[CHB][hapmap]
rs17726352	1.00[CHB][hapmap]
rs17779093	1.00[CHB][hapmap]
rs2409732	1.00[CHB][hapmap]
rs2898254	1.00[CHB][hapmap]
rs2898258	1.00[CHB][hapmap]
rs35083028	1.00[ASN][1000 genomes]
rs3923921	0.87[ASN][1000 genomes]
rs4074356	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4074822	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4076425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4270924	1.00[CHB][hapmap]
rs4320511	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs4349949	1.00[CHB][hapmap]
rs4370496	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4386942	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4507728	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4840530	0.91[CEU][hapmap]
rs4840531	0.87[ASN][1000 genomes]
rs4841469	0.80[EUR][1000 genomes]
rs4841471	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4841472	0.94[EUR][1000 genomes]
rs4841473	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4841474	0.92[EUR][1000 genomes]
rs4841475	0.94[EUR][1000 genomes]
rs4841476	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841477	0.86[EUR][1000 genomes]
rs4841478	0.91[EUR][1000 genomes]
rs4841479	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56011306	1.00[ASN][1000 genomes]
rs56052312	0.87[EUR][1000 genomes]
rs56112120	0.87[ASN][1000 genomes]
rs56278516	0.82[EUR][1000 genomes]
rs56319439	0.82[EUR][1000 genomes]
rs59446076	0.87[ASN][1000 genomes]
rs61427182	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601546	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs6601550	1.00[CHB][hapmap]
rs67113145	1.00[ASN][1000 genomes]
rs6983680	1.00[CHB][hapmap]
rs6990395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994928	1.00[CHB][hapmap]
rs6999969	1.00[CHB][hapmap]
rs7000298	1.00[CHB][hapmap]
rs7000431	1.00[CHB][hapmap]
rs7001599	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7010099	1.00[CHB][hapmap]
rs7010126	1.00[CHB][hapmap]
rs7014291	1.00[CHB][hapmap]
rs7016361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73196884	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73196885	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73196888	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7350066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7350072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7350074	1.00[ASN][1000 genomes]
rs7813323	0.87[ASN][1000 genomes]
rs7820231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7820777	1.00[CHB][hapmap]
rs7822400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7824797	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7826561	0.92[EUR][1000 genomes]
rs7833832	0.94[EUR][1000 genomes]
rs7836687	0.93[EUR][1000 genomes]
rs7836720	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7837828	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7838051	1.00[CHB][hapmap]
rs7838833	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7840980	1.00[CHB][hapmap]
rs7841435	1.00[CHB][hapmap]
rs7842214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7845088	1.00[CHB][hapmap]
rs7846545	1.00[JPT][hapmap]
rs9329232	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9329237	1.00[CHB][hapmap]
rs9657542	0.91[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11784312	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10871400-10872800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:10871400-10873000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:10871400-10874200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:10871400-10874400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:10871800-10874400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:10872200-10872800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr8:10872200-10873000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
8	chr8:10872200-10873400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr8:10872200-10874200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:10872400-10872800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr8:10872400-10872800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:10872400-10872800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr8:10872400-10872800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr8:10872400-10872800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:10872400-10872800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:10872400-10872800	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr8:10872400-10872800	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr8:10872400-10872800	Active TSS	Brain Hippocampus Middle	brain
19	chr8:10872400-10872800	Enhancers	Brain Substantia Nigra	brain
20	chr8:10872400-10872800	Bivalent Enhancer	Fetal Brain Female	brain
21	chr8:10872400-10872800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr8:10872400-10872800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:10872400-10873000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr8:10872400-10873000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:10872400-10873000	Active TSS	Colonic Mucosa	Colon
26	chr8:10872400-10873000	Weak transcription	Esophagus	oesophagus
27	chr8:10872400-10873000	Bivalent Enhancer	Fetal Heart	heart
28	chr8:10872400-10873000	Enhancers	Pancreas	Pancrea
29	chr8:10872400-10873000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
30	chr8:10872400-10873200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr8:10872400-10873400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:10872400-10873400	Active TSS	Primary B cells from cord blood	blood
33	chr8:10872400-10873600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:10872400-10873600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:10872400-10873600	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:10872400-10874200	Active TSS	Spleen	Spleen
37	chr8:10872400-10874400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:10872400-10874400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:10872400-10874400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:10872400-10874400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:10872400-10874400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:10872400-10874400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:10872400-10874400	Active TSS	Colon Smooth Muscle	Colon
44	chr8:10872400-10874400	Active TSS	Rectal Smooth Muscle	rectum
45	chr8:10872400-10874600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:10872400-10874600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:10872400-10874600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr8:10872400-10874600	Active TSS	Brain Angular Gyrus	brain
49	chr8:10872400-10874600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr8:10872400-10874600	Bivalent Enhancer	Fetal Brain Male	brain

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