Variant report

Variant	rs528605611
Chromosome Location	chr14:69011880-69011881
allele	G/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	FOXM1	chr14:69010956-69012525	ECC-1	luminal epithelium:	n/a	n/a
2	TAL1	chr14:69011790-69011943	K562	blood:	n/a	n/a
3	POLR2A	chr14:69010283-69012485	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA1	chr14:69011665-69012141	PBDE	blood:	n/a	n/a
5	TCF12	chr14:69010976-69012489	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr14:69010757-69012531	ECC-1	luminal epithelium:	n/a	chr14:69012108-69012122
7	POLR2A	chr14:69011714-69011933	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr14:69011090-69011927	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr14:69011111-69011969	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr14:69010846-69012388	ECC-1	luminal epithelium:	n/a	chr14:69011438-69011454

Variant related genes	Relation type
RAD51B	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1048064	chr14:68991041-69012766	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69002400-69016600	Weak transcription	Gastric	stomach
2	chr14:69005000-69013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:69005000-69015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:69006000-69014600	Enhancers	NHDF-Ad	bronchial
5	chr14:69006200-69012000	Weak transcription	Lung	lung
6	chr14:69006400-69013200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:69006400-69013800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:69006800-69012800	Weak transcription	Esophagus	oesophagus
9	chr14:69006800-69013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:69006800-69014200	Weak transcription	Brain Substantia Nigra	brain
11	chr14:69006800-69014400	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:69006800-69014600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:69007200-69013400	Weak transcription	Right Ventricle	heart
14	chr14:69007400-69013600	Weak transcription	Fetal Heart	heart
15	chr14:69007800-69013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:69007800-69014000	Weak transcription	Brain Anterior Caudate	brain
17	chr14:69008000-69013800	Enhancers	HMEC	breast
18	chr14:69008000-69013800	Enhancers	HSMM	muscle
19	chr14:69008200-69013400	Weak transcription	Ovary	ovary
20	chr14:69008400-69013600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:69008400-69013600	Weak transcription	Fetal Kidney	kidney
22	chr14:69008400-69013800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:69008400-69014200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:69009000-69012200	Enhancers	Osteobl	bone
25	chr14:69009000-69013400	Enhancers	NHEK	skin
26	chr14:69009000-69013800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
28	chr14:69009200-69012200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:69009200-69013400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:69009200-69016600	Enhancers	Colon Smooth Muscle	Colon
31	chr14:69009400-69013400	Enhancers	Rectal Smooth Muscle	rectum
32	chr14:69009400-69017600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:69009600-69014600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:69009600-69016000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:69009800-69012400	Enhancers	Psoas Muscle	Psoas
36	chr14:69009800-69012400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:69009800-69013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:69010000-69013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:69010200-69012000	Enhancers	Fetal Lung	lung
40	chr14:69010200-69012200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:69010200-69013400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:69010400-69012000	Enhancers	Right Atrium	heart
43	chr14:69010400-69012200	Enhancers	HSMMtube	muscle
44	chr14:69010400-69013600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:69010400-69015200	Enhancers	NHLF	lung
46	chr14:69010400-69017000	Enhancers	Pancreas	Pancrea
47	chr14:69010400-69018600	Enhancers	Fetal Stomach	stomach
48	chr14:69010600-69014200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:69010800-69012000	Enhancers	Liver	Liver
50	chr14:69010800-69012200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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