Variant report

Variant	esv3412675
Chromosome Location	chr14:78080689-78081103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78078614..78081375-chr14:78084834..78087635,2	MCF-7	breast:
2	chr14:78068423..78071899-chr14:78079739..78082860,4	K562	blood:
3	chr14:78064657..78067063-chr14:78079647..78083000,3	MCF-7	breast:
4	chr14:78080102..78083060-chr14:78184904..78187965,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192850436	chr14:78080724-78080725	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571825170	chr14:78080725-78080726	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146736175	chr14:78080745-78080746	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386779054	chr14:78080746-78080747	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8021200	chr14:78080749-78080750	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs191384012	chr14:78080773-78080774	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8021660	chr14:78080783-78080784	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374848401	chr14:78080790-78080791	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs176904	chr14:78080804-78080805	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs8021376	chr14:78080832-78080833	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2267754	chr14:78080845-78080846	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556639501	chr14:78080864-78080865	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573360107	chr14:78080868-78080869	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536081191	chr14:78080876-78080877	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552744359	chr14:78080880-78080881	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34467614	chr14:78080888-78080889	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572826439	chr14:78080896-78080897	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185090966	chr14:78080956-78080957	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565162181	chr14:78080961-78080962	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368860485	chr14:78080985-78080986	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs371476242	chr14:78080993-78080994	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572876570	chr14:78080994-78080995	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs59868078	chr14:78081004-78081005	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201623449	chr14:78081006-78081007	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs397946721	chr14:78081014-78081015	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs189270396	chr14:78081052-78081053	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs146019178	chr14:78081070-78081071	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148668997	chr14:78081101-78081102	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
4	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:78070200-78081600	Weak transcription	Liver	Liver
7	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78070600-78081400	Weak transcription	Ovary	ovary
9	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
10	chr14:78072400-78081200	Weak transcription	Fetal Heart	heart
11	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:78072800-78081400	Weak transcription	Colonic Mucosa	Colon
13	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
14	chr14:78074200-78081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:78074600-78081200	Weak transcription	Fetal Intestine Large	intestine
16	chr14:78074600-78081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:78074600-78081400	Weak transcription	Right Atrium	heart
18	chr14:78074600-78081600	Weak transcription	Fetal Thymus	thymus
19	chr14:78074800-78081400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:78075600-78082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:78076600-78082000	Weak transcription	Gastric	stomach
22	chr14:78076800-78081600	Weak transcription	Lung	lung
23	chr14:78077200-78082000	Weak transcription	Spleen	Spleen
24	chr14:78077600-78081200	Enhancers	Brain Hippocampus Middle	brain
25	chr14:78078200-78081200	Enhancers	Primary B cells from cord blood	blood
26	chr14:78078200-78081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:78078200-78082000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:78078400-78080800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:78078400-78080800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr14:78078400-78081000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:78078400-78081200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:78078400-78081200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:78078400-78081400	Enhancers	HepG2	liver
34	chr14:78078400-78081400	Enhancers	HUVEC	blood vessel
35	chr14:78078600-78081200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:78078600-78081400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:78078600-78081400	Weak transcription	Fetal Brain Female	brain
38	chr14:78078800-78081400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:78078800-78081600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr14:78079000-78081400	Weak transcription	Adipose Nuclei	Adipose
41	chr14:78079000-78081600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:78079200-78081400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:78079200-78081400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:78079200-78081400	Weak transcription	Fetal Kidney	kidney
45	chr14:78079400-78080800	Enhancers	Primary T cells from cord blood	blood
46	chr14:78079400-78080800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:78079400-78080800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:78079400-78080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:78079400-78081400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:78079400-78081600	Enhancers	Primary B cells from peripheral blood	blood

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