Variant report

Variant	rs4740053
Chromosome Location	chr8:86415184-86415185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86414152..86417222-chr8:87353264..87356667,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10504812	0.91[CHD][hapmap]
rs10504813	0.84[CHD][hapmap]
rs10907474	0.89[CHD][hapmap]
rs11985733	0.81[ASW][hapmap]
rs168600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2055077	0.89[CHD][hapmap]
rs2548281	0.87[CHD][hapmap]
rs2645049	0.82[CHD][hapmap]
rs3087782	0.89[CHD][hapmap]
rs359534	0.99[ASN][1000 genomes]
rs359535	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3758078	0.91[CHD][hapmap]
rs7016369	0.89[CHD][hapmap]
rs9329911	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1023965	chr8:86405135-86452164	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1807380	chr8:86405478-86886412	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv1829254	chr8:86405478-86886412	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1831796	chr8:86405478-86886412	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1807498	chr8:86405478-86986703	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	esv1828364	chr8:86405478-86986703	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	esv1831268	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	esv1844000	chr8:86405478-86986703	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	esv1851686	chr8:86405478-86986703	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv427824	chr8:86405478-86986703	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv525974	chr8:86407520-86415959	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4740053	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs4740053	C8orf59	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86408200-86420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:86412400-86416200	Enhancers	NHEK	skin
3	chr8:86412800-86415200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr8:86413000-86415600	Enhancers	Primary T cells from cord blood	blood
5	chr8:86413000-86415600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr8:86413200-86415800	Enhancers	Brain Substantia Nigra	brain
7	chr8:86413200-86416200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:86413400-86416600	Enhancers	Brain Hippocampus Middle	brain
9	chr8:86413600-86415400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:86413800-86415200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:86413800-86415200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:86413800-86419400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:86413800-86420000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:86414000-86416200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:86414200-86415200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:86414200-86415600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:86414200-86415800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:86414200-86416200	Enhancers	Fetal Lung	lung
19	chr8:86414600-86416000	Enhancers	Brain Anterior Caudate	brain
20	chr8:86414600-86416000	Weak transcription	HMEC	breast
21	chr8:86414800-86415200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:86414800-86415600	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:86414800-86419200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:86414800-86419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:86414800-86420000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:86414800-86420000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:86415000-86415200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:86415000-86415800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:86415000-86419400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:86415000-86420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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