Variant report

Variant	rs1693512
Chromosome Location	chr15:52820786-52820787
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52819283..52821980-chr16:88877332..88878840,2	MCF-7	breast:
2	chr15:52819791..52821534-chr15:52970285..52973265,2	MCF-7	breast:
3	chr15:52584393..52589074-chr15:52819513..52822265,5	MCF-7	breast:
4	chr15:52819294..52821098-chr15:52860363..52863142,2	MCF-7	breast:
5	chr15:52820217..52824623-chr15:52859000..52863588,7	MCF-7	breast:
6	chr15:52718660..52721440-chr15:52817990..52820866,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198931	Chromatin interaction
ENSG00000047346	Chromatin interaction
ENSG00000128833	Chromatin interaction
ENSG00000128989	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1693516	0.90[AFR][1000 genomes]
rs1693519	0.80[AFR][1000 genomes]
rs1724599	0.81[AFR][1000 genomes]
rs1724600	0.90[AFR][1000 genomes]
rs1724602	0.80[AFR][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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3406407	chr15:52820185-52823033	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3444715	chr15:52820360-52822458	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52818400-52822000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:52819400-52822000	Active TSS	Brain Anterior Caudate	brain
3	chr15:52819600-52821000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr15:52819600-52821600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:52819600-52822000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:52819600-52822000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr15:52819800-52820800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr15:52819800-52820800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr15:52819800-52820800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:52819800-52820800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:52819800-52820800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
12	chr15:52819800-52820800	Bivalent/Poised TSS	Stomach Mucosa	stomach
13	chr15:52819800-52821400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:52819800-52822000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr15:52819800-52822000	Active TSS	Brain Angular Gyrus	brain
16	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr15:52819800-52822200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:52819800-52822600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:52820000-52820800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr15:52820000-52820800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr15:52820000-52820800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr15:52820000-52821400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:52820000-52821600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:52820000-52821600	Active TSS	Thymus	Thymus
25	chr15:52820000-52821600	Active TSS	HSMMtube	muscle
26	chr15:52820000-52821800	Active TSS	Fetal Brain Female	brain
27	chr15:52820000-52822000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:52820000-52822000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:52820000-52822000	Active TSS	Right Atrium	heart
30	chr15:52820000-52822000	Active TSS	Right Ventricle	heart
31	chr15:52820000-52822200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr15:52820000-52822200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr15:52820000-52822400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:52820200-52820800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:52820200-52820800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr15:52820200-52820800	Flanking Active TSS	Placenta	Placenta
37	chr15:52820200-52820800	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr15:52820200-52820800	Flanking Active TSS	Osteobl	bone
39	chr15:52820200-52821000	Flanking Active TSS	Liver	Liver
40	chr15:52820200-52821000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr15:52820200-52821000	Bivalent/Poised TSS	Fetal Lung	lung
42	chr15:52820200-52821400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:52820200-52821400	Active TSS	Pancreas	Pancrea
44	chr15:52820200-52821600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:52820200-52821600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:52820200-52821600	Active TSS	Brain Substantia Nigra	brain
47	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Stomach	stomach
50	chr15:52820200-52821600	Bivalent/Poised TSS	Fetal Thymus	thymus

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