Variant report

Variant	rs56356707
Chromosome Location	chr14:80678147-80678148
allele	-/A
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	GATA3	chr14:80678029-80679098	A549	lung:	n/a	chr14:80678905-80678916
2	POLR2A	chr14:80677309-80678196	PFSK-1	brain:	n/a	n/a
3	BCL3	chr14:80678136-80678924	A549	lung:	n/a	chr14:80678579-80678588 chr14:80678212-80678221
4	GATA3	chr14:80678049-80678989	SK-N-SH	brain:	n/a	chr14:80678905-80678916
5	POLR2A	chr14:80677951-80679024	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr14:80676930-80678772	Hela-S3	cervix:	n/a	n/a
7	RFX5	chr14:80678143-80678841	Hela-S3	cervix:	n/a	n/a
8	MAX	chr14:80677287-80678795	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:80678123-80678694	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr14:80678129-80679037	A549	lung:	n/a	n/a
11	SMC3	chr14:80678101-80678834	Hela-S3	cervix:	n/a	n/a
12	EP300	chr14:80678132-80679046	A549	lung:	n/a	chr14:80678358-80678372 chr14:80678574-80678588
13	RAD21	chr14:80677551-80678825	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:80677536..80678360-chr19:55918954..55919612,2	Hela-S3	cervix:
2	chr10:85899080..85899805-chr14:80678125..80678907,2	Hela-S3	cervix:

Variant related genes	Relation type
DIO2	TF binding region
ENSG00000165678	Chromatin interaction
ENSG00000108106	Chromatin interaction

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

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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv534191	chr14:80674955-80736720	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3406387	chr14:80677549-80678547	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1603379	chr14:80678146-80678147	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80673400-80678400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:80675400-80678800	Active TSS	A549	lung
3	chr14:80675800-80678600	Active TSS	Fetal Brain Female	brain
4	chr14:80676000-80678600	Active TSS	Brain Cingulate Gyrus	brain
5	chr14:80676200-80678600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:80676600-80678600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:80677200-80678600	Active TSS	Brain Substantia Nigra	brain
8	chr14:80677200-80678600	Active TSS	Psoas Muscle	Psoas
9	chr14:80677200-80678600	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr14:80677400-80678400	Active TSS	NHLF	lung
11	chr14:80677400-80678600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:80677400-80678600	Enhancers	Gastric	stomach
13	chr14:80677400-80678600	Active TSS	Rectal Smooth Muscle	rectum
14	chr14:80677400-80678600	Active TSS	HSMMtube	muscle
15	chr14:80677400-80678800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:80677400-80678800	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr14:80677400-80678800	Active TSS	Right Atrium	heart
18	chr14:80677600-80678200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:80677600-80678200	Enhancers	Fetal Lung	lung
20	chr14:80677600-80678400	Active TSS	Brain Anterior Caudate	brain
21	chr14:80677600-80678400	Active TSS	HSMM	muscle
22	chr14:80677600-80678400	Active TSS	NHDF-Ad	bronchial
23	chr14:80677600-80678400	Active TSS	Osteobl	bone
24	chr14:80677600-80678600	Active TSS	Stomach Smooth Muscle	stomach
25	chr14:80677600-80678800	Active TSS	Brain Hippocampus Middle	brain
26	chr14:80677600-80678800	Active TSS	NH-A	brain
27	chr14:80677800-80678400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr14:80677800-80678400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:80677800-80678400	Active TSS	Ovary	ovary
30	chr14:80677800-80678400	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr14:80677800-80678400	Active TSS	Hela-S3	cervix
32	chr14:80677800-80678600	Active TSS	Aorta	Aorta
33	chr14:80677800-80678800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:80677800-80678800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:80677800-80678800	Active TSS	Muscle Satellite Cultured Cells	--
36	chr14:80677800-80678800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:80677800-80678800	Active TSS	Brain Angular Gyrus	brain
38	chr14:80677800-80680000	Weak transcription	Pancreas	Pancrea
39	chr14:80677800-80681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:80677800-80681400	Weak transcription	Esophagus	oesophagus
41	chr14:80677800-80682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:80678000-80678400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:80678000-80678400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:80678000-80678400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr14:80678000-80678400	Active TSS	Fetal Muscle Leg	muscle
46	chr14:80678000-80678400	Weak transcription	Placenta	Placenta
47	chr14:80678000-80678400	Active TSS	NHEK	skin
48	chr14:80678000-80678600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:80678000-80678600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:80678000-80678600	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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