Variant report

Variant	rs4776030
Chromosome Location	chr15:52546152-52546153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52545168..52549027-chr15:52818963..52822676,4	MCF-7	breast:
2	chr15:52545028..52546786-chr15:52553340..52555593,3	MCF-7	breast:
3	chr15:52541572..52560373-chr15:52569752..52591000,64	MCF-7	breast:
4	chr15:52545269..52547136-chr15:52548888..52550831,2	MCF-7	breast:
5	chr15:52542795..52546643-chr15:52859589..52862742,4	MCF-7	breast:
6	chr15:52536664..52559220-chr15:52576974..52590204,72	MCF-7	breast:
7	chr15:52544607..52547263-chr15:52547349..52549382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128833	Chromatin interaction
ENSG00000197535	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11638448	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs3751629	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4257157	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs4608282	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs8042385	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52497800-52549000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:52505600-52549200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:52506400-52548800	Weak transcription	Fetal Kidney	kidney
4	chr15:52516000-52549400	Weak transcription	Left Ventricle	heart
5	chr15:52523400-52548600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:52524400-52579400	Weak transcription	Small Intestine	intestine
7	chr15:52525800-52554000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:52526000-52548800	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:52526200-52548200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:52527400-52548200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:52528000-52548800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:52528000-52548800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:52528600-52549600	Weak transcription	Right Ventricle	heart
14	chr15:52531600-52548600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr15:52532000-52549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:52533800-52548600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:52533800-52548800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr15:52534400-52548200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:52534400-52548800	Weak transcription	Primary T cells from cord blood	blood
20	chr15:52535800-52549400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:52536200-52553600	Weak transcription	Lung	lung
22	chr15:52536200-52553800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:52536600-52548800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:52536600-52548800	Weak transcription	Brain Anterior Caudate	brain
25	chr15:52536600-52549000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr15:52536800-52549000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:52537200-52549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:52537600-52548800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:52538000-52554600	Weak transcription	Colonic Mucosa	Colon
30	chr15:52538800-52546400	Weak transcription	Adipose Nuclei	Adipose
31	chr15:52539200-52546400	Weak transcription	Spleen	Spleen
32	chr15:52539600-52553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:52539800-52548800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:52539800-52548800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:52540000-52548400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:52540000-52553800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:52540200-52549200	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:52541800-52549200	Enhancers	Stomach Mucosa	stomach
39	chr15:52542200-52548600	Enhancers	Hela-S3	cervix
40	chr15:52542200-52549200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:52542400-52553800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:52542800-52547800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:52542800-52550400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:52542800-52550400	Enhancers	NH-A	brain
45	chr15:52543600-52548400	Weak transcription	Fetal Thymus	thymus
46	chr15:52543600-52555400	Weak transcription	Liver	Liver
47	chr15:52543800-52547400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:52543800-52548000	Weak transcription	Fetal Heart	heart
49	chr15:52543800-52549000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:52544200-52547800	Enhancers	HMEC	breast

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