Variant report

Variant	nsv976373
Chromosome Location	chr14:105077690-105078597
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	chr14:104907597..104909438-chr14:105077013..105079589,2	K562	blood:
2	chr14:105062889..105065817-chr14:105075857..105078518,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536998748	chr14:105077693-105077694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185348314	chr14:105077700-105077701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578192060	chr14:105077711-105077712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60899596	chr14:105077726-105077727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10136712	chr14:105077727-105077728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs553019431	chr14:105077735-105077736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572989465	chr14:105077856-105077857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139844062	chr14:105077870-105077871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375860185	chr14:105077872-105077873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77355633	chr14:105077910-105077911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188893000	chr14:105077934-105077935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560852713	chr14:105077957-105077958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76630787	chr14:105078032-105078033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77526295	chr14:105078043-105078044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559838781	chr14:105078053-105078054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181379767	chr14:105078094-105078095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545178648	chr14:105078097-105078098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58491824	chr14:105078115-105078116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10136937	chr14:105078153-105078154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs143168234	chr14:105078209-105078210	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550693060	chr14:105078210-105078211	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4340263	chr14:105078251-105078252	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs536294660	chr14:105078265-105078266	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553222919	chr14:105078266-105078267	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573063465	chr14:105078267-105078268	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56013109	chr14:105078279-105078280	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558800677	chr14:105078296-105078297	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58151147	chr14:105078299-105078300	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145459142	chr14:105078337-105078338	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561014150	chr14:105078372-105078373	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574366896	chr14:105078377-105078378	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539859376	chr14:105078380-105078381	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149228913	chr14:105078398-105078399	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528802440	chr14:105078419-105078420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551914217	chr14:105078460-105078461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529277317	chr14:105078469-105078470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565120005	chr14:105078506-105078507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531035358	chr14:105078529-105078530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36009192	chr14:105078561-105078562	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
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105077400-105078400	Enhancers	Fetal Brain Male	brain
2	chr14:105077600-105078000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:105078000-105078400	Enhancers	Brain Germinal Matrix	brain
4	chr14:105078200-105078400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:105078200-105078400	Enhancers	Fetal Brain Female	brain
6	chr14:105078400-105083200	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links