Variant report

Variant	esv3442741
Chromosome Location	chr14:104820457-104822405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104818033..104822202-chr14:104826990..104831579,5	MCF-7	breast:
2	chr14:104820148..104824002-chr14:104833372..104835893,3	MCF-7	breast:
3	chr14:104820971..104823040-chr14:104824214..104826295,2	MCF-7	breast:
4	chr14:104810513..104812777-chr14:104821342..104823710,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111243858	chr14:104820457-104820458	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547939652	chr14:104820497-104820498	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76411364	chr14:104820503-104820504	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539513424	chr14:104820521-104820522	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114068608	chr14:104820572-104820573	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569701664	chr14:104820583-104820584	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74088547	chr14:104820616-104820617	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372132771	chr14:104820636-104820637	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555231101	chr14:104820681-104820682	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189228710	chr14:104820685-104820686	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568872062	chr14:104820694-104820695	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557299795	chr14:104820707-104820708	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376048238	chr14:104820728-104820729	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537809746	chr14:104820735-104820736	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369386754	chr14:104820757-104820758	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372906513	chr14:104820782-104820783	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116873768	chr14:104820839-104820840	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181589679	chr14:104820848-104820849	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186522671	chr14:104820849-104820850	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531804806	chr14:104820874-104820875	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375578247	chr14:104820880-104820881	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542574786	chr14:104820889-104820890	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562347947	chr14:104820895-104820896	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140347336	chr14:104820909-104820910	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554718886	chr14:104820936-104820937	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568129041	chr14:104820965-104820966	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547828298	chr14:104821012-104821013	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533796572	chr14:104821037-104821038	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75264324	chr14:104821138-104821139	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368972996	chr14:104821358-104821359	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553925024	chr14:104821424-104821425	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111323578	chr14:104821439-104821440	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550001774	chr14:104821440-104821441	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539724644	chr14:104821472-104821473	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535254333	chr14:104821473-104821474	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74409343	chr14:104821531-104821532	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565657298	chr14:104821586-104821587	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534567675	chr14:104821617-104821618	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs557741514	chr14:104821653-104821654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs191909523	chr14:104821658-104821659	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs111997324	chr14:104821676-104821677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs556765798	chr14:104821689-104821690	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs35541293	chr14:104821703-104821704	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs559053054	chr14:104821710-104821711	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs576605760	chr14:104821733-104821734	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs542464640	chr14:104821741-104821742	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs562230213	chr14:104821766-104821767	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs75469377	chr14:104821787-104821788	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs541698788	chr14:104821819-104821820	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs182276966	chr14:104821831-104821832	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104819600-104820800	Bivalent Enhancer	Right Ventricle	heart
2	chr14:104819800-104821000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:104819800-104822000	Bivalent Enhancer	Fetal Stomach	stomach
4	chr14:104820000-104823400	Enhancers	Brain Germinal Matrix	brain
5	chr14:104820000-104823600	Enhancers	Fetal Muscle Leg	muscle
6	chr14:104820000-104824200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr14:104820200-104821000	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr14:104820200-104821000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
9	chr14:104820200-104822400	Enhancers	Left Ventricle	heart
10	chr14:104820200-104823000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr14:104820400-104820600	Bivalent Enhancer	Brain Hippocampus Middle	brain
12	chr14:104820400-104821000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:104820400-104821000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:104820400-104821000	Enhancers	Lung	lung
15	chr14:104820400-104821600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:104820400-104821600	Weak transcription	Spleen	Spleen
17	chr14:104820400-104822600	Enhancers	Fetal Lung	lung
18	chr14:104820400-104822800	Enhancers	Fetal Brain Male	brain
19	chr14:104820600-104821000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:104820600-104821000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr14:104820600-104821000	Enhancers	Fetal Brain Female	brain
22	chr14:104820800-104821000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:104820800-104821000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:104820800-104821000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:104821000-104821400	Weak transcription	Lung	lung
26	chr14:104821200-104822200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr14:104821400-104823000	Enhancers	Lung	lung
28	chr14:104821600-104822000	Enhancers	Spleen	Spleen
29	chr14:104821600-104822400	Enhancers	Fetal Intestine Small	intestine
30	chr14:104821600-104823200	Enhancers	Adipose Nuclei	Adipose
31	chr14:104821600-104823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:104821800-104822400	Enhancers	Fetal Intestine Large	intestine
33	chr14:104822000-104823200	Enhancers	Fetal Stomach	stomach
34	chr14:104822000-104823200	Weak transcription	Spleen	Spleen
35	chr14:104822400-104826400	Weak transcription	Fetal Intestine Large	intestine
36	chr14:104822400-104826600	Weak transcription	Fetal Intestine Small	intestine

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