Variant report

Variant	esv3340621
Chromosome Location	chr14:105033957-105036455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105032385..105034173-chr14:105061495..105063938,2	K562	blood:
2	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
3	chr14:105035401..105038783-chr14:105042040..105045385,3	MCF-7	breast:
4	chr14:105034085..105038904-chr14:105041483..105045004,4	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534483726	chr14:105033968-105033969	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs561988004	chr14:105034006-105034007	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538781890	chr14:105034044-105034045	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527774984	chr14:105034059-105034060	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541541226	chr14:105034066-105034067	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564304574	chr14:105034131-105034132	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77681639	chr14:105034144-105034145	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111455878	chr14:105034176-105034177	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60640359	chr14:105034179-105034180	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577498642	chr14:105034187-105034188	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186271840	chr14:105034200-105034201	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549189011	chr14:105034262-105034263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs192176302	chr14:105034270-105034271	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs534405027	chr14:105034271-105034272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs35183807	chr14:105034337-105034338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs4592592	chr14:105034350-105034351	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs571128416	chr14:105034355-105034356	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs537055838	chr14:105034368-105034369	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs142143546	chr14:105034369-105034370	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs576321004	chr14:105034370-105034371	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs182633988	chr14:105034385-105034386	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs36026662	chr14:105034408-105034409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs575980132	chr14:105034450-105034451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs116545188	chr14:105034512-105034513	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs572337434	chr14:105034513-105034514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs541129824	chr14:105034514-105034515	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs145923448	chr14:105034540-105034541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs577911448	chr14:105034546-105034547	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs543808669	chr14:105034561-105034562	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs563712945	chr14:105034590-105034591	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs186018606	chr14:105034594-105034595	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs542316563	chr14:105034680-105034681	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs559554368	chr14:105034688-105034689	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs138549195	chr14:105034711-105034712	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs551145218	chr14:105034758-105034759	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs571332451	chr14:105034773-105034774	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs113127878	chr14:105034783-105034784	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs550159907	chr14:105034787-105034788	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191293385	chr14:105034814-105034815	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs543692148	chr14:105034820-105034821	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs556443604	chr14:105034823-105034824	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs60388711	chr14:105034840-105034841	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs535729917	chr14:105034874-105034875	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs555653576	chr14:105034897-105034898	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs567213694	chr14:105034918-105034919	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs572274167	chr14:105034927-105034928	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs182666161	chr14:105034937-105034938	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557931009	chr14:105034964-105034965	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs534697726	chr14:105034971-105034972	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs553152878	chr14:105034992-105034993	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Ependymoma	20639864	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105030400-105040400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105030800-105036600	Weak transcription	Fetal Heart	heart
3	chr14:105031000-105038600	Weak transcription	Right Atrium	heart
4	chr14:105031400-105035600	Weak transcription	Brain Germinal Matrix	brain
5	chr14:105033200-105034200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr14:105033400-105034000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:105033400-105034400	Bivalent Enhancer	Fetal Stomach	stomach
8	chr14:105033400-105046000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr14:105033600-105034000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:105033600-105034200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr14:105033600-105034200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:105033600-105034200	Enhancers	Fetal Lung	lung
13	chr14:105033600-105034200	Enhancers	A549	lung
14	chr14:105033600-105034600	Enhancers	Fetal Brain Male	brain
15	chr14:105033600-105034600	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr14:105033800-105034000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:105033800-105034200	Enhancers	Fetal Brain Female	brain
18	chr14:105034000-105034200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:105034000-105034200	Bivalent Enhancer	Placenta	Placenta
20	chr14:105034000-105036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:105034200-105035200	Weak transcription	Fetal Brain Female	brain
22	chr14:105034600-105035000	Weak transcription	Fetal Brain Male	brain
23	chr14:105034800-105036400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr14:105035000-105035600	Enhancers	Esophagus	oesophagus
25	chr14:105035000-105039200	Enhancers	Fetal Brain Male	brain
26	chr14:105035200-105035400	Enhancers	Fetal Brain Female	brain
27	chr14:105035400-105035600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr14:105035400-105036000	Flanking Active TSS	Fetal Brain Female	brain
29	chr14:105035600-105035800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr14:105035600-105035800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:105035600-105037000	Weak transcription	Esophagus	oesophagus
32	chr14:105035600-105039000	Enhancers	Brain Germinal Matrix	brain
33	chr14:105035800-105036200	Enhancers	Fetal Lung	lung
34	chr14:105036000-105036200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr14:105036000-105036600	Enhancers	Fetal Brain Female	brain
36	chr14:105036200-105036400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:105036200-105036400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr14:105036200-105037400	Weak transcription	Fetal Lung	lung
39	chr14:105036400-105038600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links