Variant report

Variant	esv1997159
Chromosome Location	chr14:104363015-104363016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
2	chr14:104362395..104363093-chr16:28332093..28332593,2	HCT-116	colon:
3	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
4	chr14:104272756..104274930-chr14:104362407..104364169,2	K562	blood:
5	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088808	chromatin interactions
ENSG00000258735	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 95 )

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	rs372057260	chr14:104363015-104363016	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104356800-104364000	Weak transcription	HMEC	breast
2	chr14:104357800-104363400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:104360400-104363400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr14:104362400-104363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:104362600-104363200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr14:104362600-104363200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:104362600-104365800	Enhancers	Fetal Intestine Small	intestine
8	chr14:104362600-104366000	Enhancers	Fetal Intestine Large	intestine
9	chr14:104362800-104363200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr14:104362800-104363200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr14:104362800-104363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:104362800-104363200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr14:104362800-104363200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr14:104362800-104363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:104362800-104363200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:104362800-104363200	ZNF genes & repeats	Brain Substantia Nigra	brain
17	chr14:104362800-104363200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr14:104362800-104363200	ZNF genes & repeats	Fetal Kidney	kidney
19	chr14:104362800-104363200	ZNF genes & repeats	Fetal Lung	lung
20	chr14:104362800-104363200	ZNF genes & repeats	Lung	lung
21	chr14:104362800-104363200	Transcr. at gene 5' and 3'	Pancreas	Pancrea
22	chr14:104362800-104363200	Active TSS	Rectal Smooth Muscle	rectum
23	chr14:104362800-104363200	Enhancers	Small Intestine	intestine
24	chr14:104362800-104363200	Flanking Active TSS	Stomach Mucosa	stomach
25	chr14:104362800-104363200	ZNF genes & repeats	NHEK	skin
26	chr14:104362800-104363400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr14:104362800-104363600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:104362800-104364800	Enhancers	Right Ventricle	heart
29	chr14:104362800-104365400	Enhancers	Gastric	stomach
30	chr14:104362800-104366600	Enhancers	Esophagus	oesophagus
31	chr14:104363000-104363200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:104363000-104363200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr14:104363000-104363200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr14:104363000-104363200	Enhancers	Left Ventricle	heart
35	chr14:104363000-104363200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr14:104363000-104363200	Flanking Active TSS	Spleen	Spleen
37	chr14:104363000-104363400	Flanking Active TSS	Liver	Liver
38	chr14:104363000-104363400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr14:104363000-104363400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:104363000-104363800	Flanking Active TSS	HepG2	liver
41	chr14:104363000-104364000	Enhancers	Duodenum Smooth Muscle	Duodenum

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