Variant report

Variant	rs28528384
Chromosome Location	chr14:55272055-55272056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55271581..55274371-chr14:55277437..55280415,2	MCF-7	breast:
2	chr14:55030863..55032132-chr14:55271983..55273151,4	K562	blood:
3	chr14:55030910..55034480-chr14:55271107..55275366,4	K562	blood:
4	chr14:55270899..55272684-chr14:55285548..55287241,2	MCF-7	breast:
5	chr14:55031494..55033561-chr14:55270591..55273317,2	K562	blood:
6	chr14:55040891..55043330-chr14:55270490..55273400,2	K562	blood:
7	chr14:55270234..55274125-chr14:55367170..55370199,7	MCF-7	breast:
8	chr14:55237445..55239866-chr14:55271701..55273428,2	K562	blood:
9	chr14:55224993..55226570-chr14:55270689..55273331,2	MCF-7	breast:
10	chr14:55031156..55033292-chr14:55272031..55274309,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction
ENSG00000131979	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10140189	1.00[AMR][1000 genomes]
rs10143025	1.00[AMR][1000 genomes]
rs10146709	1.00[AMR][1000 genomes]
rs10147430	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55241200-55272200	Weak transcription	A549	lung
2	chr14:55257200-55272400	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:55257800-55272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:55258000-55272200	Weak transcription	Right Ventricle	heart
5	chr14:55262000-55272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:55262000-55274800	Weak transcription	Spleen	Spleen
7	chr14:55262200-55272400	Weak transcription	Aorta	Aorta
8	chr14:55269200-55272400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:55269600-55273000	Enhancers	Fetal Intestine Large	intestine
10	chr14:55270000-55273000	Enhancers	Fetal Heart	heart
11	chr14:55270600-55272200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:55270600-55272200	Enhancers	HepG2	liver
13	chr14:55270600-55272400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:55270600-55272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:55270800-55272200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:55270800-55272600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:55271000-55272200	Weak transcription	K562	blood
18	chr14:55271000-55272600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr14:55271000-55272600	Enhancers	HMEC	breast
20	chr14:55271200-55272400	Weak transcription	Right Atrium	heart
21	chr14:55271200-55272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:55271400-55272200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:55271400-55272600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
24	chr14:55271400-55272600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:55271400-55272600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:55271400-55272600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:55271400-55273000	Flanking Active TSS	NHEK	skin
28	chr14:55271600-55272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:55271600-55272400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr14:55271600-55273000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:55271800-55272200	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
32	chr14:55271800-55272200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:55271800-55272400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
34	chr14:55271800-55272400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr14:55271800-55272400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:55271800-55272600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
37	chr14:55271800-55272800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr14:55271800-55272800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:55271800-55273000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr14:55272000-55272200	Active TSS	Brain Cingulate Gyrus	brain
41	chr14:55272000-55272200	Enhancers	Osteobl	bone
42	chr14:55272000-55272400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:55272000-55272400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:55272000-55272400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:55272000-55272400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:55272000-55272400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:55272000-55272600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr14:55272000-55272600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr14:55272000-55272600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:55272000-55273000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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