Variant report

Variant	rs11786088
Chromosome Location	chr8:95836140-95836141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95833785..95836631-chr8:95907421..95910283,3	K562	blood:
2	chr16:2802269..2803164-chr8:95835810..95836533,2	NB4	blood:
3	chr8:95835762..95837523-chr8:95870146..95872501,2	K562	blood:
4	chr8:95835209..95837028-chr8:96037260..96039348,2	MCF-7	breast:
5	chr8:95834207..95836973-chr8:95878829..95880737,2	MCF-7	breast:
6	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:
7	chr8:95728931..95732611-chr8:95833805..95837140,4	MCF-7	breast:
8	chr8:95729194..95732045-chr8:95835297..95837724,2	MCF-7	breast:
9	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
10	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
11	chr8:95825181..95829614-chr8:95834341..95841614,7	MCF-7	breast:
12	chr8:95836017..95837740-chr8:95890553..95892391,2	MCF-7	breast:
13	chr8:95824061..95826384-chr8:95834647..95837331,2	MCF-7	breast:
14	chr8:95835151..95838228-chr8:96036599..96039705,3	K562	blood:
15	chr8:95835610..95837975-chr8:95846704..95848359,2	K562	blood:
16	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
17	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:
18	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
19	chr8:95652142..95654466-chr8:95834020..95837000,3	MCF-7	breast:
20	chr8:95652979..95654493-chr8:95835871..95837977,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167978	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000205913	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10111300	1.00[CHB][hapmap]
rs10113545	1.00[CHB][hapmap]
rs10504939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956927	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774806	0.93[ASN][1000 genomes]
rs11775475	0.89[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775899	0.82[EUR][1000 genomes]
rs11776131	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776489	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11776687	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778250	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778553	1.00[JPT][hapmap]
rs11779041	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11779252	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11779698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781099	0.93[ASN][1000 genomes]
rs11781188	0.90[ASN][1000 genomes]
rs11781429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781712	0.96[EUR][1000 genomes]
rs11781757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781843	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782617	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11782818	1.00[JPT][hapmap]
rs11783522	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783878	1.00[JPT][hapmap]
rs11783941	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11784299	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11786021	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11786389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786429	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11786451	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11787377	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787442	0.93[ASN][1000 genomes]
rs12056517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12056808	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893774	0.89[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs16917079	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917081	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16917102	1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes]
rs16917106	1.00[JPT][hapmap]
rs16917117	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16917224	1.00[CHB][hapmap]
rs17359493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28399553	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399563	0.92[EUR][1000 genomes]
rs28399571	0.89[EUR][1000 genomes]
rs3802191	1.00[JPT][hapmap]
rs4073916	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323442	1.00[CHB][hapmap]
rs4345531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355737	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57063661	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773845	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489999	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58675831	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59091366	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59265059	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521030	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171840	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471505	1.00[CHB][hapmap]
rs6986418	0.80[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989591	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008542	1.00[CHB][hapmap]
rs7009940	0.80[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs716733	1.00[JPT][hapmap]
rs73269162	0.93[ASN][1000 genomes]
rs73269170	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73269188	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269191	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269198	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73269199	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73271148	0.97[EUR][1000 genomes]
rs73271178	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7834966	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297950	1.00[CHB][hapmap]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11786088	INTS8	cis	multi-tissue	Pritchard
rs11786088	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95834400-95836800	Active TSS	A549	lung
2	chr8:95834600-95836200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:95834600-95836200	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr8:95834600-95836200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:95834600-95836200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:95834600-95836200	Active TSS	Brain Angular Gyrus	brain
7	chr8:95834600-95836200	Active TSS	Brain Anterior Caudate	brain
8	chr8:95834600-95836200	Active TSS	Brain Hippocampus Middle	brain
9	chr8:95834600-95836200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:95834600-95836200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr8:95834600-95836200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr8:95834600-95836200	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:95834600-95836400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:95834600-95836400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:95834600-95836400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:95834600-95836400	Active TSS	Brain Cingulate Gyrus	brain
17	chr8:95834600-95836400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr8:95834600-95836400	Active TSS	Brain Substantia Nigra	brain
19	chr8:95834600-95836400	Active TSS	Colon Smooth Muscle	Colon
20	chr8:95834600-95836400	Active TSS	Hela-S3	cervix
21	chr8:95834600-95836600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:95834600-95836600	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:95834600-95837000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:95834600-95837000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:95834600-95837000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:95834600-95837200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:95834600-95837200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:95834800-95836200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:95834800-95836200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:95834800-95836200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr8:95834800-95836200	Active TSS	Liver	Liver
32	chr8:95834800-95836200	Active TSS	Osteobl	bone
33	chr8:95834800-95836400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:95834800-95836400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:95834800-95836400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr8:95834800-95836400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr8:95834800-95836400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:95834800-95836400	Active TSS	Fetal Brain Male	brain
39	chr8:95834800-95836400	Active TSS	Fetal Kidney	kidney
40	chr8:95834800-95836400	Active TSS	HMEC	breast
41	chr8:95834800-95836400	Active TSS	NH-A	brain
42	chr8:95834800-95836400	Active TSS	NHDF-Ad	bronchial
43	chr8:95834800-95836400	Active TSS	NHEK	skin
44	chr8:95834800-95836600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:95834800-95836600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:95834800-95836600	Active TSS	Duodenum Mucosa	Duodenum
47	chr8:95834800-95836600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr8:95834800-95836600	Active TSS	Fetal Intestine Large	intestine
49	chr8:95834800-95836600	Active TSS	Fetal Lung	lung
50	chr8:95834800-95836600	Active TSS	Pancreas	Pancrea

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