Variant report

Variant	nsv564751
Chromosome Location	chr14:46848641-46873776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 586 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8015465	chr14:46848641-46848642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186783850	chr14:46848646-46848647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566173043	chr14:46848667-46848668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138285054	chr14:46848673-46848674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373789754	chr14:46848689-46848690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4144029	chr14:46848701-46848702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537477693	chr14:46848729-46848730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142786043	chr14:46848800-46848801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573609921	chr14:46848815-46848816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192654791	chr14:46848826-46848827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559170666	chr14:46848852-46848853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35503752	chr14:46848856-46848857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577309789	chr14:46848866-46848867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199943139	chr14:46848867-46848868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544812261	chr14:46848884-46848885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563418728	chr14:46848912-46848913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146046264	chr14:46848921-46848922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8016371	chr14:46848922-46848923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565189075	chr14:46848934-46848935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377545508	chr14:46848961-46848962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371110901	chr14:46849013-46849014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537070975	chr14:46849079-46849080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117888025	chr14:46849096-46849097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547998035	chr14:46849104-46849105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527888762	chr14:46849122-46849123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566309594	chr14:46849184-46849185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183925063	chr14:46849195-46849196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551558846	chr14:46849212-46849213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566464286	chr14:46849227-46849228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372782248	chr14:46849231-46849232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188870352	chr14:46849234-46849235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537013406	chr14:46849247-46849248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562459276	chr14:46849250-46849251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139206000	chr14:46849319-46849320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534640956	chr14:46849322-46849323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567454101	chr14:46849337-46849338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374976028	chr14:46849338-46849339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149547601	chr14:46849350-46849351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144142462	chr14:46849378-46849379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545203176	chr14:46849388-46849389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148672802	chr14:46849394-46849395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568862223	chr14:46849460-46849461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575300652	chr14:46849507-46849508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575779342	chr14:46849524-46849525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373831544	chr14:46849537-46849538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377527605	chr14:46849542-46849543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541772313	chr14:46849556-46849557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560109474	chr14:46849568-46849569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533332596	chr14:46849578-46849579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112194276	chr14:46849590-46849591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Multiple myeloma	17550852	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46846600-46850800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:46847200-46850400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:46847200-46850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:46847600-46850400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:46847800-46850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:46850400-46851000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:46850400-46851400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:46850400-46851600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:46850400-46852000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:46850600-46851400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:46850600-46851400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:46850800-46851200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:46850800-46851200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:46850800-46851200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:46851600-46854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:46852000-46855000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:46854800-46855200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:46855000-46855400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:46866400-46866600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:46866400-46867200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:46866800-46868600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:46867200-46868400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:46868400-46868800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr14:46868400-46869200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:46868400-46869200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:46868400-46869800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:46868600-46869600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:46869000-46869400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:46869200-46871000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:46869200-46874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:46869400-46869600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:46869400-46873000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:46869600-46871800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:46869800-46871800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:46869800-46872200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:46870400-46870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:46870400-46870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:46870600-46872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:46870800-46872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:46871000-46871600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr14:46871600-46874400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:46871800-46872400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr14:46871800-46874200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:46871800-46874400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:46871800-46875200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:46871800-46877200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr14:46872000-46872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:46872000-46875000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:46872200-46873000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:46872200-46877800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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