Variant report

Variant	esv19681
Chromosome Location	chr14:105010877-105013347
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	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12893121	chr14:105010877-105010878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75475710	chr14:105010882-105010883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370444715	chr14:105010883-105010884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534925420	chr14:105010888-105010889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74086904	chr14:105010924-105010925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571739891	chr14:105010925-105010926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537023882	chr14:105010929-105010930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149944612	chr14:105011013-105011014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561198747	chr14:105011042-105011043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145004739	chr14:105011085-105011086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375989045	chr14:105011105-105011106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536553258	chr14:105011120-105011121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553351090	chr14:105011126-105011127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573066039	chr14:105011145-105011146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545259321	chr14:105011152-105011153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386781053	chr14:105011180-105011181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79341736	chr14:105011182-105011183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149077126	chr14:105011184-105011185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67768618	chr14:105011210-105011211	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35044597	chr14:105011212-105011213	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567578794	chr14:105011218-105011219	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371474867	chr14:105011220-105011221	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560941228	chr14:105011262-105011263	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529703376	chr14:105011279-105011280	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs542901314	chr14:105011281-105011282	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs539814693	chr14:105011324-105011325	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536533330	chr14:105011346-105011347	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559652666	chr14:105011355-105011356	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7160524	chr14:105011367-105011368	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556436451	chr14:105011402-105011403	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs551582132	chr14:105011424-105011425	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs4983599	chr14:105011436-105011437	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531046048	chr14:105011437-105011438	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs142126722	chr14:105011438-105011439	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs146704452	chr14:105011486-105011487	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs536686344	chr14:105011500-105011501	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs553289739	chr14:105011535-105011536	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs566801783	chr14:105011562-105011563	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs373748394	chr14:105011566-105011567	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs146323434	chr14:105011590-105011591	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs4983600	chr14:105011617-105011618	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78994901	chr14:105011626-105011627	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs140280207	chr14:105011650-105011651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs186075740	chr14:105011672-105011673	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs532094863	chr14:105011699-105011700	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs539868320	chr14:105011791-105011792	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs6576049	chr14:105011827-105011828	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs117040789	chr14:105011916-105011917	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs58869604	chr14:105011925-105011926	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565480405	chr14:105011930-105011931	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105008000-105011600	Enhancers	Brain Germinal Matrix	brain
2	chr14:105008000-105011600	Enhancers	Fetal Brain Female	brain
3	chr14:105008000-105016600	Enhancers	Fetal Brain Male	brain
4	chr14:105008600-105012000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:105009600-105011000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:105009600-105012400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:105009800-105014600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:105011000-105011600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:105011000-105011600	Enhancers	Brain Substantia Nigra	brain
10	chr14:105011200-105011400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr14:105011200-105011400	Bivalent/Poised TSS	Fetal Lung	lung
12	chr14:105011200-105011600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr14:105011200-105011800	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr14:105011200-105012000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:105011400-105011600	Bivalent Enhancer	Brain Angular Gyrus	brain
16	chr14:105011400-105011800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:105011400-105011800	Bivalent Enhancer	Brain Hippocampus Middle	brain
18	chr14:105011400-105012000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:105011400-105012600	Enhancers	Spleen	Spleen
20	chr14:105011400-105012800	Bivalent Enhancer	Fetal Lung	lung
21	chr14:105011600-105011800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:105011600-105011800	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
23	chr14:105011600-105011800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
24	chr14:105011600-105011800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr14:105011600-105011800	Flanking Active TSS	Fetal Brain Female	brain
26	chr14:105011600-105011800	Enhancers	Lung	lung
27	chr14:105011600-105012000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:105011600-105012000	Bivalent Enhancer	Brain Substantia Nigra	brain
29	chr14:105011600-105012800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr14:105011600-105013000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr14:105011600-105013800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr14:105011800-105012200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:105011800-105012200	Active TSS	Brain Anterior Caudate	brain
34	chr14:105011800-105012200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
35	chr14:105011800-105012200	Active TSS	Brain Germinal Matrix	brain
36	chr14:105011800-105012200	Active TSS	Fetal Brain Female	brain
37	chr14:105011800-105012400	Active TSS	Brain Angular Gyrus	brain
38	chr14:105011800-105012400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr14:105011800-105012600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:105011800-105012800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr14:105011800-105013000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr14:105011800-105013400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr14:105012000-105012200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr14:105012000-105012400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:105012000-105012400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
46	chr14:105012000-105012400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr14:105012000-105012400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:105012000-105012600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr14:105012000-105012600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:105012000-105012800	Bivalent Enhancer	Placenta	Placenta

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