Variant report

Variant	nsv901860
Chromosome Location	chr14:46797353-46882391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:
2	chr14:46878574..46881068-chr14:46881642..46884417,2	K562	blood:
3	chr14:46517075..46517958-chr14:46813262..46814074,4	MCF-7	breast:
4	chr14:46718996..46719973-chr14:46813315..46814211,4	MCF-7	breast:
5	chr14:46719211..46719811-chr14:46813566..46814094,2	MCF-7	breast:

Extended variants
information (count: 1412 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1412 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4405459	chr14:46797353-46797354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191620459	chr14:46797355-46797356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145789438	chr14:46797404-46797405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73232343	chr14:46797418-46797419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549964362	chr14:46797435-46797436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200758593	chr14:46797471-46797472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139989451	chr14:46797478-46797479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369948974	chr14:46797497-46797498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537296304	chr14:46797572-46797573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555786075	chr14:46797584-46797585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565981839	chr14:46797633-46797634	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73232346	chr14:46797665-46797666	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541384460	chr14:46797671-46797672	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553117414	chr14:46797728-46797729	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183728062	chr14:46797738-46797739	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570606106	chr14:46797749-46797750	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145493460	chr14:46797768-46797769	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147693031	chr14:46797785-46797786	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530720012	chr14:46797812-46797813	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145308215	chr14:46797815-46797816	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542458349	chr14:46797819-46797820	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189449191	chr14:46797820-46797821	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34469417	chr14:46797833-46797834	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs397724855	chr14:46797834-46797835	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73232348	chr14:46797850-46797851	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377342910	chr14:46797855-46797856	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs568435544	chr14:46797923-46797924	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs10498396	chr14:46797956-46797957	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570894427	chr14:46798000-46798001	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532019134	chr14:46798093-46798094	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566916122	chr14:46798108-46798109	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs114969995	chr14:46798167-46798168	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570016314	chr14:46798216-46798217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187392121	chr14:46798226-46798227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2415953	chr14:46798259-46798260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190271566	chr14:46798288-46798289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534783384	chr14:46798289-46798290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2415954	chr14:46798358-46798359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs199828978	chr14:46798395-46798396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554889581	chr14:46799205-46799206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550838217	chr14:46799257-46799258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543016596	chr14:46799276-46799277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540424007	chr14:46799314-46799315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564165240	chr14:46799352-46799353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564595797	chr14:46799356-46799357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113808945	chr14:46799398-46799399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543775531	chr14:46799399-46799400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572223912	chr14:46813075-46813076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190736589	chr14:46813088-46813089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146046821	chr14:46813089-46813090	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46793400-46797400	Weak transcription	Ovary	ovary
2	chr14:46797200-46797400	Enhancers	Primary hematopoietic stem cells	blood
3	chr14:46797200-46798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:46797200-46798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:46797400-46797600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr14:46797400-46797800	Enhancers	Ovary	ovary
7	chr14:46797600-46798000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:46797600-46798200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:46799200-46799400	Enhancers	Fetal Kidney	kidney
10	chr14:46813000-46814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:46813600-46814000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:46814800-46815800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:46818800-46821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:46836800-46838000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:46837400-46839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:46837600-46838200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:46838000-46838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:46838200-46838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:46838800-46839000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:46838800-46839800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:46844800-46845000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:46845600-46847600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:46846200-46846400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr14:46846200-46846800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:46846200-46846800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:46846200-46847200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr14:46846200-46847200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:46846400-46846800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:46846400-46847200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:46846400-46847200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:46846400-46847200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:46846600-46850800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:46846800-46848000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:46847200-46847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:46847200-46850400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:46847200-46850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:46847600-46847800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:46847600-46850400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr14:46847800-46850800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:46850400-46851000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:46850400-46851400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:46850400-46851600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:46850400-46852000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:46850600-46851400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:46850600-46851400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr14:46850800-46851200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:46850800-46851200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr14:46850800-46851200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:46851600-46854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:46852000-46855000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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