Variant report

Variant	esv3344765
Chromosome Location	chr14:78182376-78182764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78181397..78184552-chr14:78187259..78190331,4	K562	blood:
2	chr14:78083955..78086533-chr14:78181911..78184710,2	K562	blood:
3	chr14:78180959..78183091-chr14:78187177..78189093,2	MCF-7	breast:
4	chr14:78182071..78183613-chr14:78187853..78190331,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116302224	chr14:78182387-78182388	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576722766	chr14:78182388-78182389	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545898196	chr14:78182408-78182409	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374557721	chr14:78182416-78182417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576330535	chr14:78182425-78182426	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368203683	chr14:78182431-78182432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542027888	chr14:78182434-78182435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562000898	chr14:78182441-78182442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs176957	chr14:78182442-78182443	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540931552	chr14:78182456-78182457	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560552342	chr14:78182458-78182459	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551429688	chr14:78182475-78182476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552282361	chr14:78182478-78182479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562627470	chr14:78182527-78182528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531827486	chr14:78182532-78182533	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548372250	chr14:78182551-78182552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568514159	chr14:78182552-78182553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111473990	chr14:78182608-78182609	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547739160	chr14:78182638-78182639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377659727	chr14:78182645-78182646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539416815	chr14:78182649-78182650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200025390	chr14:78182657-78182658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10618098	chr14:78182673-78182674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71128669	chr14:78182674-78182675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12885306	chr14:78182677-78182678	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs576194675	chr14:78182685-78182686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138123033	chr14:78182693-78182694	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536552227	chr14:78182760-78182761	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190973508	chr14:78182761-78182762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572114728	chr14:78182763-78182764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Breast cancer	21509527	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
2	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
7	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:78176600-78182400	Strong transcription	HUVEC	blood vessel
10	chr14:78176600-78187200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr14:78176600-78187200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
18	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
21	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:78176800-78182400	Strong transcription	A549	lung
23	chr14:78176800-78183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:78176800-78190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:78176800-78191400	Weak transcription	Fetal Brain Male	brain
26	chr14:78176800-78192800	Strong transcription	Osteobl	bone
27	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:78176800-78205600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:78176800-78205600	Strong transcription	Placenta	Placenta
31	chr14:78176800-78205800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:78177000-78182400	Strong transcription	HSMM	muscle
39	chr14:78177000-78187200	Strong transcription	Thymus	Thymus
40	chr14:78177000-78189200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:78177000-78194800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:78177000-78204600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:78177000-78204600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:78177000-78205000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:78177000-78205000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr14:78177000-78205200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:78177000-78205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:78177000-78205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr14:78177000-78205800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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