Variant report

Variant	esv3345942
Chromosome Location	chr14:104005085-104005342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104005293..104008024-chr14:104095001..104096983,2	K562	blood:
2	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
3	chr14:104002894..104005189-chr14:104020540..104022849,2	K562	blood:
4	chr14:104003474..104006501-chr14:104024765..104028078,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126214	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544882972	chr14:104005140-104005141	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370545074	chr14:104005149-104005150	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534563901	chr14:104005159-104005160	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369992222	chr14:104005160-104005161	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145393196	chr14:104005161-104005162	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546391550	chr14:104005194-104005195	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73359285	chr14:104005199-104005200	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531983589	chr14:104005212-104005213	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77230146	chr14:104005233-104005234	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575051799	chr14:104005234-104005235	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568504118	chr14:104005316-104005317	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552989177	chr14:104005320-104005321	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	21364760	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

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:103997200-104005400	Weak transcription	Fetal Lung	lung
3	chr14:103997600-104006800	Weak transcription	Small Intestine	intestine
4	chr14:103997600-104013000	Weak transcription	K562	blood
5	chr14:103999400-104006800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:104000600-104008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:104001200-104006600	Weak transcription	Primary T cells from cord blood	blood
8	chr14:104001400-104007600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:104002000-104005200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:104002000-104005200	Weak transcription	Aorta	Aorta
11	chr14:104002000-104006200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:104002000-104006400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:104002000-104006800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:104002000-104008200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:104002000-104012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:104002200-104006800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:104002200-104008200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:104002400-104006600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:104002400-104009800	Weak transcription	Liver	Liver
21	chr14:104002400-104013000	Weak transcription	Dnd41	blood
22	chr14:104002600-104005400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:104002600-104005400	Weak transcription	Ovary	ovary
24	chr14:104002800-104005600	Weak transcription	Thymus	Thymus
25	chr14:104002800-104006600	Enhancers	HSMMtube	muscle
26	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:104003000-104006000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:104003000-104008000	Weak transcription	Fetal Brain Female	brain
29	chr14:104003000-104008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:104003000-104018400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:104003200-104005200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:104003200-104005800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:104003200-104006400	Enhancers	HSMM	muscle
34	chr14:104003200-104006600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:104003200-104010600	Enhancers	NHDF-Ad	bronchial
36	chr14:104003400-104005600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:104003400-104005800	Weak transcription	NHEK	skin
38	chr14:104003400-104010000	Weak transcription	Spleen	Spleen
39	chr14:104003600-104006800	Enhancers	NH-A	brain
40	chr14:104003800-104005600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:104003800-104009000	Enhancers	Fetal Muscle Leg	muscle
42	chr14:104004000-104005200	Enhancers	Fetal Muscle Trunk	muscle
43	chr14:104004000-104005200	Enhancers	Stomach Mucosa	stomach
44	chr14:104004000-104006000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:104004000-104006400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:104004000-104006800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:104004000-104008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:104004000-104008800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:104004200-104006000	Enhancers	Gastric	stomach
50	chr14:104004200-104006800	Weak transcription	Fetal Intestine Large	intestine

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