Variant report

Variant	esv10990
Chromosome Location	chr14:105371582-105373507
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	chr14:105359445..105362307-chr14:105370488..105372774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099814	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2582542	chr14:105371598-105371599	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564397401	chr14:105371620-105371621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577618074	chr14:105371626-105371627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113333520	chr14:105371629-105371630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374046343	chr14:105371641-105371642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111500280	chr14:105371643-105371644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376732677	chr14:105371660-105371661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs55839403	chr14:105371680-105371681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370935214	chr14:105371703-105371704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563332222	chr14:105371717-105371718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373172637	chr14:105371727-105371728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11160824	chr14:105371729-105371730	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs370519873	chr14:105371745-105371746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2841257	chr14:105371746-105371747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2841258	chr14:105371747-105371748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2919625	chr14:105371757-105371758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2841259	chr14:105371770-105371771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367808376	chr14:105371788-105371789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371070102	chr14:105371799-105371800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192337416	chr14:105371800-105371801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368672617	chr14:105371802-105371803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56407341	chr14:105371813-105371814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs3001416	chr14:105371844-105371845	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2919626	chr14:105371845-105371846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78295972	chr14:105371856-105371857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374336075	chr14:105371874-105371875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571313921	chr14:105371886-105371887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537051071	chr14:105371887-105371888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56278504	chr14:105371901-105371902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550646152	chr14:105371904-105371905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567251330	chr14:105371905-105371906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112299995	chr14:105371915-105371916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111733235	chr14:105371942-105371943	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111911677	chr14:105371973-105371974	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536182835	chr14:105372073-105372074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146988930	chr14:105372116-105372117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572623143	chr14:105372132-105372133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534859187	chr14:105372134-105372135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367920056	chr14:105372143-105372144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375451456	chr14:105372157-105372158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2919628	chr14:105372175-105372176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558241403	chr14:105372188-105372189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577755984	chr14:105372191-105372192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543507551	chr14:105372272-105372273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556962598	chr14:105372275-105372276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372168206	chr14:105372329-105372330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2841260	chr14:105372380-105372381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573681569	chr14:105372384-105372385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542922082	chr14:105372426-105372427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559356325	chr14:105372435-105372436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105371000-105371600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
2	chr14:105373400-105373600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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