Variant report

Variant	rs80185053
Chromosome Location	chr14:104311578-104311579
allele	C/G
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	POLR2A	chr14:104311527-104311652	K562	blood:	n/a	n/a
2	MYC	chr14:104311319-104311808	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LINC00637	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised 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	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
9	esv1838047	chr14:104283104-104359121	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv902321	chr14:104283104-104378087	Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv1817657	chr14:104311251-104314960	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104292000-104312400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:104295200-104311600	Weak transcription	Liver	Liver
3	chr14:104295200-104312200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:104295200-104312400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:104295200-104312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:104295200-104312600	Weak transcription	Small Intestine	intestine
7	chr14:104299000-104312200	Weak transcription	Hela-S3	cervix
8	chr14:104303800-104312400	Weak transcription	Adipose Nuclei	Adipose
9	chr14:104304000-104311600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:104304000-104312200	Weak transcription	Right Ventricle	heart
11	chr14:104304000-104312400	Weak transcription	Lung	lung
12	chr14:104304000-104312800	Weak transcription	Esophagus	oesophagus
13	chr14:104304000-104313000	Weak transcription	Spleen	Spleen
14	chr14:104305400-104312800	Weak transcription	Gastric	stomach
15	chr14:104306200-104312400	Weak transcription	Ovary	ovary
16	chr14:104306200-104312400	Weak transcription	Psoas Muscle	Psoas
17	chr14:104306400-104312200	Weak transcription	HMEC	breast
18	chr14:104306600-104312200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:104306600-104312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:104306800-104311600	Weak transcription	NHEK	skin
21	chr14:104306800-104311800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:104306800-104311800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:104306800-104312400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:104306800-104312400	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:104307200-104311600	Weak transcription	Fetal Heart	heart
26	chr14:104307200-104312400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:104307200-104312400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:104307800-104312400	Weak transcription	Stomach Mucosa	stomach
29	chr14:104308400-104312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:104308800-104312400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:104309000-104312800	Weak transcription	Placenta	Placenta
32	chr14:104309200-104311800	Weak transcription	Right Atrium	heart
33	chr14:104309200-104312400	Weak transcription	Colonic Mucosa	Colon
34	chr14:104309600-104312400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:104310400-104312200	Weak transcription	Fetal Intestine Small	intestine
36	chr14:104310600-104311800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:104310600-104312400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:104310600-104312400	Enhancers	HepG2	liver
39	chr14:104311000-104311800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:104311000-104311800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:104311000-104312400	Weak transcription	Left Ventricle	heart
42	chr14:104311000-104312800	Weak transcription	Pancreas	Pancrea

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