Variant report

Variant	nsv564771
Chromosome Location	chr14:47608303-47660376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1032 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1952219	chr14:47608303-47608304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537194611	chr14:47608373-47608374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543167594	chr14:47608383-47608384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559911868	chr14:47608414-47608415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72680208	chr14:47608554-47608555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528659632	chr14:47608604-47608605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112566787	chr14:47608605-47608606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184419977	chr14:47608695-47608696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117329570	chr14:47608713-47608714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545298272	chr14:47608726-47608727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577436979	chr14:47608764-47608765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549324439	chr14:47608782-47608783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562960062	chr14:47608802-47608803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536913648	chr14:47608861-47608862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548653136	chr14:47608883-47608884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558873277	chr14:47608886-47608887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72680209	chr14:47608889-47608890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541018731	chr14:47608910-47608911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549179872	chr14:47608916-47608917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560769869	chr14:47608925-47608926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199777916	chr14:47608993-47608994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1041172	chr14:47608999-47609000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112578545	chr14:47609004-47609005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5028963	chr14:47609005-47609006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34290479	chr14:47609007-47609008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377555126	chr14:47609008-47609009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386381288	chr14:47609016-47609017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397797585	chr14:47609017-47609018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199833647	chr14:47609018-47609019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9743953	chr14:47609022-47609023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200613449	chr14:47609024-47609025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141599060	chr14:47609030-47609031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111483325	chr14:47609032-47609033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576039938	chr14:47609034-47609035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536676356	chr14:47609036-47609037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553180840	chr14:47609042-47609043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111339990	chr14:47609044-47609045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569350841	chr14:47609052-47609053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573332217	chr14:47609069-47609070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67084057	chr14:47609075-47609076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201432287	chr14:47609076-47609077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35861727	chr14:47609086-47609087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368412441	chr14:47609087-47609088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4341670	chr14:47609088-47609089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34039193	chr14:47609090-47609091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397836076	chr14:47609103-47609104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4900730	chr14:47609104-47609105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190437841	chr14:47609107-47609108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575814004	chr14:47609126-47609127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138439871	chr14:47609176-47609177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47597600-47612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47614600-47615400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:47614800-47615400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:47615200-47615600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:47615400-47616600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:47616600-47616800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:47618200-47619400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr14:47618800-47619200	Enhancers	NH-A	brain
9	chr14:47618800-47620000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr14:47619200-47619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:47623600-47624000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:47623600-47625000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:47623800-47624400	Enhancers	Spleen	Spleen
14	chr14:47625000-47629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:47629600-47629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:47635800-47637200	Enhancers	Fetal Kidney	kidney
17	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
23	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel
24	chr14:47655200-47656800	Enhancers	HUVEC	blood vessel
25	chr14:47655600-47655800	Enhancers	Brain Germinal Matrix	brain
26	chr14:47655600-47655800	Enhancers	Fetal Kidney	kidney
27	chr14:47655600-47656200	Enhancers	NH-A	brain
28	chr14:47655800-47656200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:47655800-47658400	Weak transcription	Brain Germinal Matrix	brain
30	chr14:47656200-47661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:47656200-47661000	Weak transcription	NH-A	brain
32	chr14:47656600-47657400	Weak transcription	Fetal Kidney	kidney
33	chr14:47657400-47658600	Enhancers	Fetal Kidney	kidney
34	chr14:47658400-47658600	Enhancers	Brain Germinal Matrix	brain
35	chr14:47658600-47659000	Weak transcription	Brain Germinal Matrix	brain
36	chr14:47659000-47659400	Enhancers	Brain Germinal Matrix	brain
37	chr14:47659400-47659600	Enhancers	Pancreas	Pancrea

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