Variant report

Variant	esv3333954
Chromosome Location	chr14:104936607-104939905
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	chr14:104936926..104938597-chr14:104940514..104942466,3	MCF-7	breast:
2	chr14:104935381..104936897-chr14:104942473..104945422,2	MCF-7	breast:

Extended variants
information (count: 164 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571317044	chr14:104936613-104936614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372274331	chr14:104936620-104936621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556727945	chr14:104936640-104936641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34962605	chr14:104936644-104936645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116951921	chr14:104936692-104936693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535770519	chr14:104936733-104936734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555622817	chr14:104936779-104936780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547798676	chr14:104936784-104936785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572132574	chr14:104936792-104936793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567703291	chr14:104936815-104936816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558008881	chr14:104936893-104936894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578056507	chr14:104936913-104936914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187131341	chr14:104936942-104936943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543504477	chr14:104936943-104936944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146381442	chr14:104936944-104936945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529064362	chr14:104936981-104936982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542978449	chr14:104937030-104937031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559664651	chr14:104937034-104937035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57143933	chr14:104937096-104937097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369031754	chr14:104937114-104937115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372195540	chr14:104937125-104937126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533670897	chr14:104937158-104937159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139711808	chr14:104937175-104937176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199589205	chr14:104937179-104937180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191566210	chr14:104937193-104937194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550379558	chr14:104937202-104937203	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570248596	chr14:104937214-104937215	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535628295	chr14:104937271-104937272	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111595168	chr14:104937284-104937285	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566021006	chr14:104937288-104937289	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534945221	chr14:104937318-104937319	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs558134989	chr14:104937388-104937389	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577929878	chr14:104937438-104937439	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537567735	chr14:104937447-104937448	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557159701	chr14:104937495-104937496	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573909288	chr14:104937506-104937507	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs144372767	chr14:104937532-104937533	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs28684681	chr14:104937554-104937555	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs146602724	chr14:104937586-104937587	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79483088	chr14:104937598-104937599	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576271140	chr14:104937644-104937645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28399812	chr14:104937659-104937660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117206535	chr14:104937693-104937694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61589904	chr14:104937694-104937695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28417674	chr14:104937724-104937725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149175934	chr14:104937768-104937769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142342862	chr14:104937769-104937770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75466941	chr14:104937798-104937799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371079993	chr14:104937803-104937804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535006151	chr14:104937825-104937826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104930000-104938600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104937200-104937600	Active TSS	Spleen	Spleen
3	chr14:104938000-104938400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:104938000-104938600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:104938000-104938800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:104938200-104938600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr14:104938400-104938600	Enhancers	Fetal Brain Female	brain
8	chr14:104938600-104940400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:104938600-104940400	Weak transcription	Fetal Brain Female	brain
10	chr14:104938800-104939200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:104938800-104942600	Enhancers	Brain Germinal Matrix	brain
12	chr14:104939000-104940800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:104939200-104939400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:104939200-104939400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:104939200-104939400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:104939400-104940400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:104939800-104940000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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