Variant report

Variant	rs11775475
Chromosome Location	chr8:95905489-95905490
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:95905339-95906912	PBDE	blood:	n/a	chr8:95905684-95905692

No.	Distal block	Cell Line	Cell type
1	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
2	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
3	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:

Variant related genes	Relation type
NDUFAF6	TF binding region
CCNE2	TF binding region
ENSG00000164941	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10504939	0.83[CEU][hapmap]
rs10956927	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11776131	0.86[EUR][1000 genomes]
rs11776489	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11776687	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11777132	0.92[EUR][1000 genomes]
rs11777353	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs11778553	0.82[CEU][hapmap]
rs11779252	0.86[EUR][1000 genomes]
rs11779282	0.82[AMR][1000 genomes]
rs11779698	0.83[CEU][hapmap]
rs11781429	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs11781712	0.86[EUR][1000 genomes]
rs11781757	0.83[CEU][hapmap]
rs11782617	0.89[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11782818	0.82[CEU][hapmap]
rs11783522	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783589	0.89[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11783878	0.82[CEU][hapmap]
rs11783941	0.80[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs11784299	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11786088	0.89[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11786389	0.89[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11786429	0.85[EUR][1000 genomes]
rs11786451	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11787377	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12056517	0.89[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12056808	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16893774	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16917079	0.89[CEU][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16917082	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs16917093	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16917106	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs16917117	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17359493	0.89[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17665737	0.81[CEU][hapmap]
rs28399553	0.94[CEU][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28399563	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28399571	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2904889	0.82[AMR][1000 genomes]
rs3802191	0.82[CEU][hapmap]
rs4075834	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4355737	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs57063661	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57773845	0.86[EUR][1000 genomes]
rs58489999	0.85[EUR][1000 genomes]
rs58675831	0.90[EUR][1000 genomes]
rs59091366	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59265059	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59521030	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60171840	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989591	0.89[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7009940	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs716733	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs73269188	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73269198	0.90[EUR][1000 genomes]
rs73269199	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73271148	0.91[EUR][1000 genomes]
rs73271178	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7834966	0.82[CEU][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7844932	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11775475	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 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	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:95881200-95905800	Weak transcription	Spleen	Spleen
7	chr8:95882200-95906600	Weak transcription	Gastric	stomach
8	chr8:95883400-95905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:95883600-95905600	Weak transcription	Small Intestine	intestine
10	chr8:95886000-95905600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:95886000-95906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95887600-95906200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:95888200-95906600	Weak transcription	Ovary	ovary
14	chr8:95890000-95906200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:95890200-95906600	Weak transcription	Lung	lung
16	chr8:95890600-95906800	Weak transcription	Aorta	Aorta
17	chr8:95890800-95905800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:95890800-95905800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:95890800-95905800	Weak transcription	Psoas Muscle	Psoas
20	chr8:95891000-95906600	Weak transcription	Left Ventricle	heart
21	chr8:95891400-95905600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:95891800-95905800	Weak transcription	Esophagus	oesophagus
23	chr8:95891800-95906000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:95892400-95906400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:95893600-95905800	Weak transcription	HepG2	liver
26	chr8:95893800-95906000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:95894000-95905600	Weak transcription	Primary T cells from cord blood	blood
28	chr8:95894000-95905600	Weak transcription	NHLF	lung
29	chr8:95894000-95905800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:95894000-95905800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:95894000-95906200	Weak transcription	Fetal Kidney	kidney
32	chr8:95894400-95905600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:95894600-95905600	Weak transcription	Placenta	Placenta
34	chr8:95894800-95905600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr8:95894800-95905600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:95894800-95905800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:95894800-95905800	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:95894800-95905800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:95894800-95906000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:95894800-95906400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:95895000-95905600	Weak transcription	Fetal Brain Female	brain
42	chr8:95895000-95905800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:95895200-95905600	Weak transcription	Primary B cells from cord blood	blood
44	chr8:95895200-95905600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:95895200-95905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr8:95895200-95905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:95895200-95905800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:95895200-95905800	Weak transcription	Fetal Brain Male	brain
49	chr8:95895200-95906200	Weak transcription	Fetal Intestine Large	intestine
50	chr8:95895600-95905800	Weak transcription	Liver	Liver

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