Variant report

Variant	rs12056517
Chromosome Location	chr8:95877285-95877286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95833077..95835963-chr8:95876251..95878917,2	K562	blood:
2	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10096455	1.00[CHB][hapmap]
rs10098197	1.00[CHB][hapmap]
rs10111300	1.00[CHB][hapmap]
rs10113545	1.00[CHB][hapmap]
rs1031388	1.00[CHB][hapmap]
rs10504939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956927	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11775475	0.89[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11775899	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776131	0.94[EUR][1000 genomes]
rs11776489	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11776687	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11777132	0.93[EUR][1000 genomes]
rs11777353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs11778250	0.83[EUR][1000 genomes]
rs11778553	1.00[JPT][hapmap]
rs11779041	0.81[EUR][1000 genomes]
rs11779252	0.94[EUR][1000 genomes]
rs11779698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781040	1.00[CHB][hapmap]
rs11781429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11781712	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11781757	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11781843	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11782617	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11782818	1.00[JPT][hapmap]
rs11783522	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11783878	1.00[JPT][hapmap]
rs11783941	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11784299	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11786021	1.00[JPT][hapmap]
rs11786088	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]
rs11786389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11786429	0.93[EUR][1000 genomes]
rs11786451	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11787377	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12056808	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893774	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16917079	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16917081	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16917082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs16917093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16917102	1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917106	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs16917117	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16917224	1.00[CHB][hapmap]
rs17359493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17665737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2599711	1.00[CHB][hapmap]
rs28399553	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28399563	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28399571	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3802191	1.00[JPT][hapmap]
rs4073916	0.85[EUR][1000 genomes]
rs4075834	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4323442	1.00[CHB][hapmap]
rs4345531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs4355737	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57063661	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57773845	0.94[EUR][1000 genomes]
rs58489999	0.91[EUR][1000 genomes]
rs58675831	0.97[EUR][1000 genomes]
rs59091366	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59265059	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59521030	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60171840	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6471505	1.00[CHB][hapmap]
rs6651271	1.00[CHB][hapmap]
rs6986418	0.80[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6989591	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7008542	1.00[CHB][hapmap]
rs7009940	0.80[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs716733	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73269170	0.81[EUR][1000 genomes]
rs73269188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73269191	0.81[EUR][1000 genomes]
rs73269198	0.97[EUR][1000 genomes]
rs73269199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73271148	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73271178	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7834966	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][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
rs12056517	INTS8	cis	multi-tissue	Pritchard
rs12056517	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
7	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
8	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
9	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
11	chr8:95870200-95877400	Weak transcription	NHEK	skin
12	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
13	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
15	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:95870400-95877400	Weak transcription	HepG2	liver
17	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
18	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
20	chr8:95871400-95889600	Weak transcription	NHLF	lung
21	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
22	chr8:95871800-95877600	Weak transcription	Ovary	ovary
23	chr8:95872200-95877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:95872200-95878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:95872200-95880400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:95872400-95878600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
29	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
31	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
32	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:95874200-95878800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:95874200-95879200	Strong transcription	Osteobl	bone
35	chr8:95874200-95883400	Strong transcription	Liver	Liver
36	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:95874400-95878200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:95874400-95878600	Weak transcription	Fetal Intestine Small	intestine
45	chr8:95874400-95879400	Strong transcription	Dnd41	blood
46	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:95874600-95879800	Strong transcription	K562	blood

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