Variant report

Variant	rs4600419
Chromosome Location	chr15:52541221-52541222
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52538818..52541921-chr15:52541930..52545867,4	K562	blood:
2	chr15:52534831..52539766-chr15:52540408..52545106,6	MCF-7	breast:
3	chr15:52536445..52539563-chr15:52540903..52544563,5	K562	blood:
4	chr15:52539435..52542328-chr15:52552750..52555467,4	MCF-7	breast:
5	chr15:52539890..52542033-chr15:52860156..52861946,2	MCF-7	breast:
6	chr15:52530481..52532321-chr15:52539248..52541574,2	MCF-7	breast:
7	chr15:52536664..52559220-chr15:52576974..52590204,72	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128833	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7183588	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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:71 , 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	chr15:52528600-52542600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:52528600-52549600	Weak transcription	Right Ventricle	heart
15	chr15:52531600-52548600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr15:52532000-52549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:52533400-52542400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr15:52533600-52542200	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr15:52533800-52541600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:52533800-52542000	Strong transcription	Gastric	stomach
21	chr15:52533800-52543200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr15:52533800-52543200	Strong transcription	HepG2	liver
23	chr15:52533800-52543600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:52533800-52543600	Strong transcription	Pancreas	Pancrea
25	chr15:52533800-52544400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:52533800-52544400	Strong transcription	Fetal Intestine Small	intestine
27	chr15:52533800-52546000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:52533800-52548600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:52533800-52548800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:52534000-52542400	Strong transcription	Fetal Stomach	stomach
31	chr15:52534400-52543800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:52534400-52548200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:52534400-52548800	Weak transcription	Primary T cells from cord blood	blood
34	chr15:52535000-52541400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:52535800-52549400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:52536200-52553600	Weak transcription	Lung	lung
37	chr15:52536200-52553800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:52536400-52542200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:52536600-52548800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:52536600-52548800	Weak transcription	Brain Anterior Caudate	brain
41	chr15:52536600-52549000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:52536800-52549000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:52537200-52549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:52537400-52541800	Weak transcription	Stomach Mucosa	stomach
45	chr15:52537600-52548800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:52537800-52543600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:52538000-52554600	Weak transcription	Colonic Mucosa	Colon
48	chr15:52538200-52542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:52538400-52542200	Weak transcription	Hela-S3	cervix
50	chr15:52538800-52546400	Weak transcription	Adipose Nuclei	Adipose

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