Variant report

Variant	esv3396739
Chromosome Location	chr14:77995534-77996008
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	chr14:77994149..77997086-chr14:81685480..81687340,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 75 )

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	rs569047202	chr14:77995556-77995557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538018726	chr14:77995576-77995577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554938900	chr14:77995578-77995579	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199526633	chr14:77995588-77995589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138756315	chr14:77995589-77995590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76134149	chr14:77995592-77995593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376864115	chr14:77995594-77995595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551201419	chr14:77995596-77995597	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs67561245	chr14:77995597-77995598	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2886130	chr14:77995598-77995599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10150525	chr14:77995599-77995600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146238135	chr14:77995614-77995615	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375570741	chr14:77995621-77995622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574774055	chr14:77995622-77995623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139326564	chr14:77995634-77995635	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553042204	chr14:77995651-77995652	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186363536	chr14:77995673-77995674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549668985	chr14:77995711-77995712	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545137354	chr14:77995722-77995723	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs67504382	chr14:77995723-77995724	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112618697	chr14:77995731-77995732	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145444100	chr14:77995735-77995736	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190766433	chr14:77995736-77995737	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561295003	chr14:77995752-77995753	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530284923	chr14:77995758-77995759	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141532796	chr14:77995771-77995772	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182993657	chr14:77995777-77995778	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147681043	chr14:77995794-77995795	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142347121	chr14:77995835-77995836	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187330491	chr14:77995837-77995838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146305239	chr14:77995872-77995873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552331712	chr14:77995928-77995929	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191633867	chr14:77995939-77995940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368536661	chr14:77995963-77995964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200908697	chr14:77995965-77995966	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199696395	chr14:77995966-77995967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11621005	chr14:77995967-77995968	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74528133	chr14:77995981-77995982	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74446156	chr14:77995986-77995987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77972000-78018000	Weak transcription	Hela-S3	cervix
3	chr14:77978000-78013400	Weak transcription	NHDF-Ad	bronchial
4	chr14:77978600-78014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:77978800-78042200	Weak transcription	Fetal Brain Male	brain
6	chr14:77979000-78003800	Weak transcription	K562	blood
7	chr14:77979000-78009400	Weak transcription	Stomach Mucosa	stomach
8	chr14:77979000-78013800	Weak transcription	Pancreas	Pancrea
9	chr14:77979400-77997200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:77982800-77999800	Weak transcription	A549	lung
11	chr14:77985200-78008800	Weak transcription	Gastric	stomach
12	chr14:77985200-78014800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:77985400-78007800	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:77985400-78015000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:77985600-78007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:77986200-78013800	Weak transcription	Esophagus	oesophagus
17	chr14:77986800-78008600	Weak transcription	Brain Germinal Matrix	brain
18	chr14:77987400-77999400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:77987400-78009200	Weak transcription	Aorta	Aorta
20	chr14:77987400-78021000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:77987600-78010200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:77987600-78010600	Weak transcription	Left Ventricle	heart
23	chr14:77987800-77997000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:77987800-77997200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:77987800-77997400	Weak transcription	Brain Angular Gyrus	brain
26	chr14:77987800-77999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:77987800-78007200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:77987800-78008800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:77987800-78008800	Weak transcription	Fetal Thymus	thymus
30	chr14:77987800-78013400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:77987800-78013600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:77987800-78013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:77987800-78014600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:77987800-78014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:77987800-78014800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:77987800-78015000	Weak transcription	Thymus	Thymus
37	chr14:77987800-78015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:77988000-77997000	Weak transcription	GM12878-XiMat	blood
40	chr14:77988000-78000400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:77988000-78000400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:77988000-78001000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:77988000-78001000	Weak transcription	Fetal Intestine Large	intestine
44	chr14:77988000-78003800	Weak transcription	Fetal Kidney	kidney
45	chr14:77988000-78007800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:77988000-78007800	Weak transcription	Brain Anterior Caudate	brain
47	chr14:77988000-78007800	Weak transcription	Brain Substantia Nigra	brain
48	chr14:77988000-78008200	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:77988000-78008800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:77988000-78008800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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