Variant report

Variant	rs8034613
Chromosome Location	chr15:52549435-52549436
allele	C/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	EP300	chr15:52549317-52550570	ECC-1	luminal epithelium:	n/a	chr15:52550268-52550284
2	CTCF	chr15:52547881-52549474	A549	lung:	n/a	chr15:52548676-52548689 chr15:52548673-52548691 chr15:52548675-52548696 chr15:52548674-52548690

No.	Distal block	Cell Line	Cell type
1	chr15:52541572..52560373-chr15:52569752..52591000,64	MCF-7	breast:
2	chr15:52549166..52552176-chr15:52598023..52601011,3	MCF-7	breast:
3	chr15:52536664..52559220-chr15:52576974..52590204,72	MCF-7	breast:

Variant related genes	Relation type
MYO5C	TF binding region
ENSG00000128833	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11070889	1.00[JPT][hapmap]
rs3751625	1.00[ASN][1000 genomes]
rs4448882	0.91[AMR][1000 genomes]

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	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52524400-52579400	Weak transcription	Small Intestine	intestine
2	chr15:52525800-52554000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:52528600-52549600	Weak transcription	Right Ventricle	heart
4	chr15:52536200-52553600	Weak transcription	Lung	lung
5	chr15:52536200-52553800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:52538000-52554600	Weak transcription	Colonic Mucosa	Colon
7	chr15:52539600-52553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:52540000-52553800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:52542400-52553800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:52542800-52550400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:52542800-52550400	Enhancers	NH-A	brain
12	chr15:52543600-52555400	Weak transcription	Liver	Liver
13	chr15:52544400-52550600	Enhancers	NHDF-Ad	bronchial
14	chr15:52545000-52550200	Strong transcription	Fetal Intestine Small	intestine
15	chr15:52545600-52549800	Genic enhancers	A549	lung
16	chr15:52546800-52553600	Weak transcription	Spleen	Spleen
17	chr15:52546800-52553800	Weak transcription	Esophagus	oesophagus
18	chr15:52547000-52552000	Weak transcription	Gastric	stomach
19	chr15:52547000-52553400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:52547000-52555800	Weak transcription	Fetal Intestine Large	intestine
21	chr15:52547600-52553800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:52547800-52553400	Weak transcription	HMEC	breast
23	chr15:52548000-52550400	Enhancers	Fetal Heart	heart
24	chr15:52548200-52549800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:52548200-52550000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:52548200-52550200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:52548200-52551000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:52548400-52549800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr15:52548400-52550400	Enhancers	Fetal Thymus	thymus
30	chr15:52548400-52550600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:52548400-52551000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr15:52548600-52550000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:52548600-52550400	Enhancers	Fetal Muscle Trunk	muscle
34	chr15:52548600-52550600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:52548600-52552000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:52548800-52549600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:52548800-52549600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr15:52548800-52549600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr15:52548800-52549600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr15:52548800-52549600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:52548800-52549600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr15:52548800-52549600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:52548800-52549600	Enhancers	Brain Anterior Caudate	brain
44	chr15:52548800-52549600	Enhancers	Duodenum Mucosa	Duodenum
45	chr15:52548800-52549600	Enhancers	Thymus	Thymus
46	chr15:52548800-52549800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:52548800-52550000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr15:52548800-52550000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr15:52548800-52550000	Enhancers	Fetal Kidney	kidney
50	chr15:52548800-52550200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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