Variant report

Variant	esv3423377
Chromosome Location	chr14:105078607-105082905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105074893..105076947-chr14:105079863..105082631,2	MCF-7	breast:
2	chr14:105082698..105084896-chr14:105087171..105089277,2	K562	blood:
3	chr14:104907597..104909438-chr14:105077013..105079589,2	K562	blood:

Extended variants
information (count: 164 )
Associated
traits (count: 98 )

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	rs550657065	chr14:105078703-105078704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567459959	chr14:105078744-105078745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs207475214	chr14:105078813-105078814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536608129	chr14:105078815-105078816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546679717	chr14:105078824-105078825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142448304	chr14:105079018-105079019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538542445	chr14:105079041-105079042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151306955	chr14:105079062-105079063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10135130	chr14:105079171-105079172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186364176	chr14:105079179-105079180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566165088	chr14:105079242-105079243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190769151	chr14:105079276-105079277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375804781	chr14:105079328-105079329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141772309	chr14:105079371-105079372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181023659	chr14:105079403-105079404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553500493	chr14:105079405-105079406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370183310	chr14:105079433-105079434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111243401	chr14:105079454-105079455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10137691	chr14:105079467-105079468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530998405	chr14:105079486-105079487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544411133	chr14:105079623-105079624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560999410	chr14:105079666-105079667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536918676	chr14:105079673-105079674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11628111	chr14:105079717-105079718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185999319	chr14:105079719-105079720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566732640	chr14:105079745-105079746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150204217	chr14:105079767-105079768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368933383	chr14:105079772-105079773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191369822	chr14:105079784-105079785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571704726	chr14:105079790-105079791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138708227	chr14:105079814-105079815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554827634	chr14:105079835-105079836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183240832	chr14:105079857-105079858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149331815	chr14:105079859-105079860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537762140	chr14:105079862-105079863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57052521	chr14:105079866-105079867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7401672	chr14:105079937-105079938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557341832	chr14:105079992-105079993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553858154	chr14:105080015-105080016	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs576757223	chr14:105080016-105080017	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs11628289	chr14:105080065-105080066	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs558784849	chr14:105080077-105080078	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs74088568	chr14:105080111-105080112	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187020899	chr14:105080116-105080117	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs190645832	chr14:105080147-105080148	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs530347242	chr14:105080177-105080178	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs540368699	chr14:105080182-105080183	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs560677980	chr14:105080215-105080216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570447578	chr14:105080220-105080221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532509682	chr14:105080246-105080247	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
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105078400-105083200	Weak transcription	Fetal Brain Male	brain
2	chr14:105080000-105080200	Bivalent Enhancer	Right Ventricle	heart
3	chr14:105082800-105084600	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links