Variant report

Variant	rs752460
Chromosome Location	chr8:95490222-95490223
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	chr8:95490139..95492875-chr8:95730254..95732417,2	MCF-7	breast:
2	chr8:95485793..95488112-chr8:95489862..95491650,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction
ENSG00000197275	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10087254	0.81[EUR][1000 genomes]
rs10087503	0.81[EUR][1000 genomes]
rs10095298	0.81[EUR][1000 genomes]
rs10464877	0.80[EUR][1000 genomes]
rs10808669	0.81[EUR][1000 genomes]
rs10956913	0.81[EUR][1000 genomes]
rs10956914	0.81[EUR][1000 genomes]
rs12375355	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12549544	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12674614	0.81[EUR][1000 genomes]
rs12681366	0.87[CEU][hapmap]
rs12681504	0.80[EUR][1000 genomes]
rs12682038	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs12682524	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13248829	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1372048	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2011246	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2028428	0.84[ASN][1000 genomes]
rs2043988	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2171440	0.82[EUR][1000 genomes]
rs2197003	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2381793	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs2381886	0.81[EUR][1000 genomes]
rs2919655	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2919657	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2919658	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2919668	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2921386	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2930956	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2930961	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs2930963	0.89[EUR][1000 genomes]
rs2930964	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs2930971	0.81[EUR][1000 genomes]
rs2931631	0.81[EUR][1000 genomes]
rs2931632	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs2960121	0.82[EUR][1000 genomes]
rs2960122	0.81[EUR][1000 genomes]
rs3019145	0.81[EUR][1000 genomes]
rs3019147	0.82[EUR][1000 genomes]
rs3019149	0.96[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3019150	0.88[EUR][1000 genomes]
rs3019155	0.81[EUR][1000 genomes]
rs3019156	0.81[EUR][1000 genomes]
rs3019277	0.89[EUR][1000 genomes]
rs3019278	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs3019280	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs3019281	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs3019282	0.89[EUR][1000 genomes]
rs35918414	0.82[EUR][1000 genomes]
rs4735293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735294	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs55963151	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6999103	0.81[EUR][1000 genomes]
rs72674819	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72674824	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9297939	0.81[EUR][1000 genomes]

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	esv1835971	chr8:95467241-95490541	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95487800-95492800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95487800-95500000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95487800-95500200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:95488000-95498800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:95488000-95499000	Weak transcription	NHDF-Ad	bronchial
6	chr8:95488000-95499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:95488000-95499200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:95488000-95499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:95488000-95499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:95488000-95499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:95488000-95499400	Weak transcription	Adipose Nuclei	Adipose
12	chr8:95488000-95499400	Weak transcription	Brain Germinal Matrix	brain
13	chr8:95488000-95499400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:95488000-95499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:95488000-95499400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:95488000-95499400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:95488000-95499600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:95488000-95499600	Weak transcription	Liver	Liver
19	chr8:95488000-95499600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:95488000-95499600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:95488000-95499600	Weak transcription	Osteobl	bone
22	chr8:95488000-95499800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:95488000-95499800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:95488000-95500000	Weak transcription	GM12878-XiMat	blood
25	chr8:95488000-95500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:95488000-95500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:95488000-95500400	Weak transcription	Primary B cells from cord blood	blood
28	chr8:95488000-95500400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:95488000-95500400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:95488000-95500400	Weak transcription	HMEC	breast
31	chr8:95488000-95500400	Weak transcription	HUVEC	blood vessel
32	chr8:95488000-95501800	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:95488000-95502200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:95488000-95503600	Weak transcription	NHEK	skin
35	chr8:95488200-95491600	Weak transcription	HepG2	liver
36	chr8:95488200-95499200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:95488200-95499400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:95488200-95500200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:95488200-95501000	Weak transcription	Hela-S3	cervix
40	chr8:95488200-95507800	Weak transcription	NHLF	lung

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