Variant report

Variant	nsv976295
Chromosome Location	chr14:66169959-66172648
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	chr14:66169539..66172058-chr14:66175074..66177504,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2268963	chr14:66170023-66170024	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569812340	chr14:66170030-66170031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556016599	chr14:66170119-66170120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143834283	chr14:66170229-66170230	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77098995	chr14:66170243-66170244	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147233953	chr14:66170260-66170261	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140703575	chr14:66170281-66170282	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144290263	chr14:66170306-66170307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115927819	chr14:66170368-66170369	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548854223	chr14:66170375-66170376	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574418915	chr14:66170398-66170399	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376205025	chr14:66170414-66170415	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543481617	chr14:66170428-66170429	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114429722	chr14:66170497-66170498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142941822	chr14:66170502-66170503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs150791965	chr14:66170544-66170545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545339291	chr14:66170619-66170620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565191155	chr14:66170632-66170633	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2268964	chr14:66170661-66170662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527687417	chr14:66170681-66170682	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78557559	chr14:66170687-66170688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs9323463	chr14:66170723-66170724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139164859	chr14:66170726-66170727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550234053	chr14:66170731-66170732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569793180	chr14:66170782-66170783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181499229	chr14:66170806-66170807	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115584121	chr14:66170811-66170812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs565941887	chr14:66170860-66170861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs115810345	chr14:66170994-66170995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs17102854	chr14:66170995-66170996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200115617	chr14:66171058-66171059	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397787689	chr14:66171068-66171069	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536785943	chr14:66171069-66171070	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202118926	chr14:66171077-66171078	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576564200	chr14:66171117-66171118	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9323464	chr14:66171133-66171134	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544479683	chr14:66171139-66171140	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558840042	chr14:66171141-66171142	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562890279	chr14:66171147-66171148	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572376774	chr14:66171162-66171163	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541304946	chr14:66171167-66171168	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561161147	chr14:66171169-66171170	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550868863	chr14:66171172-66171173	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549310801	chr14:66171228-66171229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3831871	chr14:66171274-66171275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397840681	chr14:66171275-66171276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552836847	chr14:66171281-66171282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543600891	chr14:66171306-66171307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377212561	chr14:66171316-66171317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576895829	chr14:66171356-66171357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
4	chr14:66147800-66170200	Weak transcription	Primary B cells from cord blood	blood
5	chr14:66154000-66170000	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:66156000-66179600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:66156200-66172600	Weak transcription	Primary T cells from cord blood	blood
8	chr14:66160400-66170200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:66160400-66170200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:66160800-66174800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:66161200-66172400	Weak transcription	Dnd41	blood
12	chr14:66161600-66174600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:66164000-66173200	Weak transcription	Aorta	Aorta
14	chr14:66164200-66170400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:66164200-66170400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:66164400-66170200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:66165000-66170200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:66166400-66173000	Weak transcription	Esophagus	oesophagus
19	chr14:66169000-66171000	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:66169200-66170200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:66169800-66170400	Enhancers	Fetal Lung	lung
22	chr14:66169800-66189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:66170000-66170200	Weak transcription	Gastric	stomach
24	chr14:66170000-66171600	Enhancers	Brain Hippocampus Middle	brain
25	chr14:66170000-66172400	Enhancers	HSMMtube	muscle
26	chr14:66170200-66170400	Strong transcription	Primary B cells from cord blood	blood
27	chr14:66170200-66170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:66170200-66170400	Enhancers	Gastric	stomach
29	chr14:66170200-66170400	Enhancers	Psoas Muscle	Psoas
30	chr14:66170200-66170400	Enhancers	NHDF-Ad	bronchial
31	chr14:66170200-66170600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:66170200-66170600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:66170200-66170600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:66170200-66170600	Enhancers	Small Intestine	intestine
35	chr14:66170200-66170800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:66170200-66171200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr14:66170200-66171200	Enhancers	Brain Angular Gyrus	brain
38	chr14:66170200-66171400	Enhancers	Brain Germinal Matrix	brain
39	chr14:66170200-66171600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:66170200-66171600	Enhancers	GM12878-XiMat	blood
41	chr14:66170200-66171800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:66170200-66171800	Enhancers	Osteobl	bone
43	chr14:66170200-66172000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:66170200-66172000	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:66170200-66172400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:66170400-66170600	Flanking Active TSS	Fetal Lung	lung
47	chr14:66170400-66170600	Flanking Active TSS	NHDF-Ad	bronchial
48	chr14:66170400-66170800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:66170400-66170800	Enhancers	Fetal Brain Male	brain
50	chr14:66170400-66171000	Weak transcription	Primary B cells from cord blood	blood

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