Variant report

Variant	nsv977612
Chromosome Location	chr14:97037072-97040541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97032756..97036569-chr14:97036806..97040099,4	K562	blood:
2	chr14:97039485..97041409-chr14:97041476..97043217,2	K562	blood:
3	chr14:97037640..97039282-chr14:97177961..97179544,2	MCF-7	breast:
4	chr14:97034631..97037578-chr14:97040490..97042712,2	K562	blood:
5	chr14:97034631..97037578-chr14:97040490..97042712,2	K562	blood:
6	chr14:97040333..97042090-chr14:97100526..97101489,19	MCF-7	breast:
7	chr14:97040398..97040962-chr14:97100553..97101449,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546949409	chr14:97037087-97037088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571985595	chr14:97037088-97037089	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538620783	chr14:97037099-97037100	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191082913	chr14:97037103-97037104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557022262	chr14:97037105-97037106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35264138	chr14:97037169-97037170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371826616	chr14:97037176-97037177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575406214	chr14:97037209-97037210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536001985	chr14:97037284-97037285	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183719786	chr14:97037315-97037316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148568157	chr14:97037326-97037327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58112821	chr14:97037356-97037357	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564825378	chr14:97037379-97037380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148790957	chr14:97037386-97037387	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189056017	chr14:97037499-97037500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72706860	chr14:97037535-97037536	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563383698	chr14:97037605-97037606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530945127	chr14:97037629-97037630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573199676	chr14:97037643-97037644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74825100	chr14:97037703-97037704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544957164	chr14:97037728-97037729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191554191	chr14:97037734-97037735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559490076	chr14:97037737-97037738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564701871	chr14:97037795-97037796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77523110	chr14:97037818-97037819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571946969	chr14:97037884-97037885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539385604	chr14:97037952-97037953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183060790	chr14:97037974-97037975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568827836	chr14:97037980-97037981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142917414	chr14:97038034-97038035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554336836	chr14:97038039-97038040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566598741	chr14:97038067-97038068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150969442	chr14:97038188-97038189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113384849	chr14:97038196-97038197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186932856	chr14:97038205-97038206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191833462	chr14:97038276-97038277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184054102	chr14:97038358-97038359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556044363	chr14:97038392-97038393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575521621	chr14:97038399-97038400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77511441	chr14:97038400-97038401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561210144	chr14:97038404-97038405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551715933	chr14:97038431-97038432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56184178	chr14:97038434-97038435	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142065030	chr14:97038504-97038505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74086735	chr14:97038525-97038526	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs61231116	chr14:97038587-97038588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369441360	chr14:97038752-97038753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370644637	chr14:97038773-97038774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60328270	chr14:97038791-97038792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551246638	chr14:97038814-97038815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	17053054	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
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96984800-97039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:97006400-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:97008200-97039400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:97008400-97038400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr14:97008600-97040200	Strong transcription	Fetal Thymus	thymus
7	chr14:97009600-97037200	Strong transcription	HSMM	muscle
8	chr14:97010200-97040200	Strong transcription	Primary B cells from cord blood	blood
9	chr14:97016800-97039200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:97019600-97042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:97019800-97038800	Weak transcription	Small Intestine	intestine
12	chr14:97020200-97039400	Weak transcription	Psoas Muscle	Psoas
13	chr14:97020200-97039600	Weak transcription	Gastric	stomach
14	chr14:97020200-97042600	Weak transcription	Esophagus	oesophagus
15	chr14:97020400-97040400	Weak transcription	Aorta	Aorta
16	chr14:97020400-97042800	Weak transcription	Spleen	Spleen
17	chr14:97020800-97040800	Weak transcription	Colonic Mucosa	Colon
18	chr14:97023200-97039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:97023200-97040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:97023200-97046400	Weak transcription	K562	blood
21	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:97023600-97041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:97023600-97043200	Weak transcription	Right Ventricle	heart
25	chr14:97023800-97038000	Weak transcription	Brain Angular Gyrus	brain
26	chr14:97023800-97040200	Weak transcription	Fetal Stomach	stomach
27	chr14:97023800-97040600	Weak transcription	Pancreas	Pancrea
28	chr14:97023800-97040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:97023800-97042400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:97023800-97043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:97023800-97044800	Weak transcription	Lung	lung
32	chr14:97023800-97045600	Weak transcription	Fetal Intestine Small	intestine
33	chr14:97023800-97048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:97023800-97050200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:97024000-97038200	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:97024000-97040600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:97024000-97040600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:97026200-97041000	Weak transcription	Brain Germinal Matrix	brain
39	chr14:97026800-97039600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:97027600-97040600	Weak transcription	HSMMtube	muscle
41	chr14:97030000-97040200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:97031200-97040400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:97031600-97038600	Weak transcription	Thymus	Thymus
44	chr14:97031600-97040000	Weak transcription	NHEK	skin
45	chr14:97031600-97042400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:97031800-97038000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:97032000-97039600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:97032000-97039600	Weak transcription	HepG2	liver
49	chr14:97032000-97040000	Weak transcription	NHLF	lung
50	chr14:97032000-97040800	Weak transcription	Brain Anterior Caudate	brain

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