Variant report

Variant	esv3430494
Chromosome Location	chr14:104841576-104841937
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	chr14:104841247..104842926-chr14:104851671..104854407,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149349131	chr14:104841580-104841581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549078779	chr14:104841587-104841588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202083980	chr14:104841610-104841611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565752680	chr14:104841637-104841638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527904354	chr14:104841646-104841647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9671800	chr14:104841661-104841662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113988128	chr14:104841669-104841670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561861916	chr14:104841673-104841674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113698888	chr14:104841677-104841678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141536905	chr14:104841680-104841681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568180614	chr14:104841681-104841682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113277780	chr14:104841687-104841688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181148607	chr14:104841703-104841704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184625231	chr14:104841704-104841705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188897348	chr14:104841708-104841709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182437231	chr14:104841709-104841710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535428386	chr14:104841716-104841717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187145672	chr14:104841717-104841718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9671806	chr14:104841724-104841725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4076303	chr14:104841726-104841727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112357643	chr14:104841732-104841733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9671796	chr14:104841740-104841741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9671802	chr14:104841744-104841745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577911673	chr14:104841774-104841775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543339441	chr14:104841775-104841776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191201444	chr14:104841779-104841780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74088593	chr14:104841788-104841789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12883506	chr14:104841795-104841796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113922555	chr14:104841803-104841804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12883115	chr14:104841811-104841812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12883245	chr14:104841815-104841816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200726125	chr14:104841822-104841823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370077172	chr14:104841823-104841824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559501324	chr14:104841829-104841830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538282652	chr14:104841833-104841834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528191031	chr14:104841838-104841839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116586691	chr14:104841845-104841846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570939859	chr14:104841850-104841851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116122544	chr14:104841851-104841852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74088594	chr14:104841866-104841867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535463504	chr14:104841871-104841872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555298826	chr14:104841918-104841919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104831000-104842000	Weak transcription	Gastric	stomach
2	chr14:104835400-104842000	Weak transcription	Fetal Brain Male	brain
3	chr14:104840200-104842000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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