Variant report

Variant	esv12231
Chromosome Location	chr14:71046524-71050230
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	chr14:71048335..71050888-chr14:71050939..71052939,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533468329	chr14:71046532-71046533	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551974602	chr14:71046548-71046549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375730898	chr14:71046551-71046552	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147420814	chr14:71046560-71046561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs59480415	chr14:71046574-71046575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567247740	chr14:71046609-71046610	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534284822	chr14:71046706-71046707	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552938794	chr14:71046720-71046721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113597872	chr14:71046742-71046743	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538363527	chr14:71046761-71046762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556723187	chr14:71046797-71046798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs34594820	chr14:71046822-71046823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543399360	chr14:71046824-71046825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575124848	chr14:71046835-71046836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184952715	chr14:71046861-71046862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542510252	chr14:71046870-71046871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560696991	chr14:71046908-71046909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554608512	chr14:71046940-71046941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573101705	chr14:71046943-71046944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188248294	chr14:71046945-71046946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559716862	chr14:71046988-71046989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533429601	chr14:71047056-71047057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562448317	chr14:71047063-71047064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545550322	chr14:71047064-71047065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75429267	chr14:71047066-71047067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372774037	chr14:71047071-71047072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563847725	chr14:71047110-71047111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377058406	chr14:71047145-71047146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531174026	chr14:71047156-71047157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549566604	chr14:71047177-71047178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74893269	chr14:71047182-71047183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369523426	chr14:71047194-71047195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139875326	chr14:71047215-71047216	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs113068821	chr14:71047290-71047291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs546246182	chr14:71047292-71047293	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149995812	chr14:71047294-71047295	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs145179954	chr14:71047365-71047366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554330873	chr14:71047374-71047375	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs370088978	chr14:71047415-71047416	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs566102061	chr14:71047434-71047435	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568702518	chr14:71047436-71047437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181221677	chr14:71047532-71047533	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs554752601	chr14:71047581-71047582	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573024802	chr14:71047603-71047604	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552219041	chr14:71047604-71047605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs540534823	chr14:71047605-71047606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148751155	chr14:71047631-71047632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs527398991	chr14:71047657-71047658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113156604	chr14:71047705-71047706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545513347	chr14:71047730-71047731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71022800-71047000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:71023200-71050400	Weak transcription	Gastric	stomach
3	chr14:71025400-71047600	Weak transcription	NH-A	brain
4	chr14:71026400-71047000	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:71027400-71047200	Weak transcription	NHLF	lung
6	chr14:71028600-71047200	Weak transcription	Fetal Heart	heart
7	chr14:71028600-71047200	Weak transcription	Hela-S3	cervix
8	chr14:71028800-71048200	Weak transcription	HMEC	breast
9	chr14:71029000-71047200	Weak transcription	HUVEC	blood vessel
10	chr14:71029000-71056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:71029000-71058800	Weak transcription	Esophagus	oesophagus
12	chr14:71029000-71066000	Weak transcription	Small Intestine	intestine
13	chr14:71029200-71047600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:71029400-71047400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:71029400-71049200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:71029600-71048600	Weak transcription	Colonic Mucosa	Colon
17	chr14:71029800-71046800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:71030200-71047000	Weak transcription	HSMM	muscle
19	chr14:71030600-71047200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:71030800-71046600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:71030800-71046800	Weak transcription	Osteobl	bone
22	chr14:71030800-71059000	Weak transcription	Right Ventricle	heart
23	chr14:71030800-71061200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:71031000-71047000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:71031000-71047400	Weak transcription	Brain Angular Gyrus	brain
26	chr14:71031000-71051600	Weak transcription	Psoas Muscle	Psoas
27	chr14:71031000-71059000	Weak transcription	Lung	lung
28	chr14:71031200-71047000	Weak transcription	Left Ventricle	heart
29	chr14:71031200-71051600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:71031200-71052000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:71031400-71049400	Weak transcription	HepG2	liver
32	chr14:71032400-71047400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:71032600-71061000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:71032800-71047400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:71032800-71051200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:71032800-71057000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:71033200-71047400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr14:71034200-71047600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:71034200-71049400	Weak transcription	Fetal Brain Male	brain
40	chr14:71034400-71047000	Weak transcription	Ovary	ovary
41	chr14:71034400-71047200	Weak transcription	NHEK	skin
42	chr14:71034400-71047600	Weak transcription	HSMMtube	muscle
43	chr14:71034600-71047200	Weak transcription	Fetal Kidney	kidney
44	chr14:71034600-71047400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:71034600-71047600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:71034600-71048800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:71034600-71050400	Weak transcription	Fetal Intestine Small	intestine
48	chr14:71034800-71047000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:71034800-71047400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:71034800-71047400	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links