Variant report

Variant	esv3515776
Chromosome Location	chr14:104716802-104719141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104603553..104604461-chr14:104718749..104719349,2	MCF-7	breast:
2	chr14:104603438..104604496-chr14:104718718..104719807,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258748	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529388886	chr14:104716810-104716811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11305346	chr14:104716887-104716888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542718130	chr14:104716891-104716892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559791185	chr14:104716961-104716962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528320047	chr14:104716992-104716993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551141386	chr14:104717044-104717045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571242845	chr14:104717059-104717060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530682778	chr14:104717065-104717066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550572744	chr14:104717107-104717108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111717817	chr14:104717115-104717116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71397762	chr14:104717123-104717124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112182174	chr14:104717131-104717132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574850173	chr14:104717134-104717135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536234614	chr14:104717140-104717141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72478881	chr14:104717153-104717154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149608734	chr14:104717155-104717156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200654566	chr14:104717168-104717169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71419816	chr14:104717171-104717172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71421284	chr14:104717181-104717182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71419817	chr14:104717186-104717187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566548957	chr14:104717188-104717189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112158867	chr14:104717189-104717190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71419818	chr14:104717200-104717201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144019566	chr14:104717202-104717203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535264893	chr14:104717217-104717218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71419819	chr14:104717218-104717219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558347453	chr14:104717220-104717221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74929673	chr14:104717223-104717224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72478882	chr14:104717225-104717226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193018028	chr14:104717228-104717229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79228020	chr14:104717233-104717234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146454357	chr14:104717249-104717250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71419820	chr14:104717265-104717266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77298528	chr14:104717270-104717271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71419821	chr14:104717280-104717281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369600567	chr14:104717283-104717284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71421285	chr14:104717294-104717295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371808952	chr14:104717296-104717297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71419822	chr14:104717312-104717313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75841130	chr14:104717327-104717328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75998867	chr14:104717330-104717331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371033077	chr14:104717341-104717342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78542473	chr14:104717359-104717360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78616477	chr14:104717373-104717374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77868038	chr14:104717374-104717375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75607046	chr14:104717406-104717407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77813308	chr14:104717416-104717417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75072100	chr14:104717421-104717422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373376102	chr14:104717437-104717438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78485150	chr14:104717463-104717464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104713200-104719400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104713800-104717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:104714800-104719000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:104715000-104718800	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:104716800-104718400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:104718400-104719800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:104718800-104719600	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:104718800-104721800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:104718800-104721800	Enhancers	Fetal Muscle Leg	muscle
10	chr14:104719000-104719600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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