Variant report

Variant	esv2515564
Chromosome Location	chr14:81262631-81264116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79480903	chr14:81262648-81262649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs327427	chr14:81262669-81262670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150268630	chr14:81262676-81262677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535018528	chr14:81262677-81262678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199855433	chr14:81262697-81262698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562521992	chr14:81262703-81262704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145734049	chr14:81262728-81262729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34133612	chr14:81262739-81262740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141522693	chr14:81262760-81262761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35749780	chr14:81262790-81262791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114538296	chr14:81262792-81262793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112597568	chr14:81262817-81262818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61979427	chr14:81262819-81262820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540004055	chr14:81262823-81262824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558511731	chr14:81262846-81262847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192903001	chr14:81262852-81262853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147071543	chr14:81262889-81262890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565139027	chr14:81262892-81262893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67330037	chr14:81262927-81262928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375457649	chr14:81262933-81262934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138362072	chr14:81262957-81262958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369490814	chr14:81263022-81263023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541593722	chr14:81263023-81263024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114332245	chr14:81263049-81263050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs380304	chr14:81263068-81263069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530638006	chr14:81263144-81263145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545545531	chr14:81263178-81263179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564047279	chr14:81263206-81263207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528418805	chr14:81263211-81263212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184932680	chr14:81263247-81263248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189006827	chr14:81263295-81263296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550084286	chr14:81263327-81263328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377303035	chr14:81263374-81263375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551111228	chr14:81263375-81263376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181709392	chr14:81263398-81263399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10129568	chr14:81263416-81263417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186155596	chr14:81263453-81263454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567049996	chr14:81263458-81263459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573444979	chr14:81263487-81263488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534251977	chr14:81263510-81263511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116080237	chr14:81263522-81263523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117516607	chr14:81263562-81263563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189355608	chr14:81263582-81263583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182136201	chr14:81263583-81263584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574952460	chr14:81263611-81263612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545486341	chr14:81263626-81263627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143527134	chr14:81263648-81263649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148063567	chr14:81263668-81263669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540196225	chr14:81263765-81263766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561982925	chr14:81263799-81263800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas
5	chr14:81238000-81267000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:81241000-81263200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:81246800-81271600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:81248600-81263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:81249000-81266600	Weak transcription	Primary T cells from cord blood	blood
10	chr14:81250200-81266600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:81250200-81268400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:81250400-81266800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:81251800-81263600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:81251800-81282600	Weak transcription	A549	lung
15	chr14:81252200-81268200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:81256400-81271000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr14:81258800-81262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:81259400-81264400	Weak transcription	Fetal Lung	lung
19	chr14:81259400-81265200	Weak transcription	Fetal Thymus	thymus
20	chr14:81259400-81265400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:81259400-81265400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:81259400-81265400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:81259400-81265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:81259400-81265400	Weak transcription	Left Ventricle	heart
25	chr14:81259400-81266600	Weak transcription	HSMM	muscle
26	chr14:81259400-81274000	Weak transcription	Aorta	Aorta
27	chr14:81259400-81274000	Weak transcription	Pancreas	Pancrea
28	chr14:81259400-81274200	Weak transcription	Thymus	Thymus
29	chr14:81259400-81278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:81259600-81265200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:81259600-81266400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:81259600-81266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:81261400-81266400	Weak transcription	Dnd41	blood
34	chr14:81263200-81263400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr14:81263200-81263800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:81263400-81264000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:81263600-81263800	Enhancers	HUES64 Cell Line	embryonic stem cell

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