Variant report

Variant	nsv902154
Chromosome Location	chr14:83792205-84023013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:
2	chr14:83846964..83847609-chr9:125714705..125715642,2	MCF-7	breast:
3	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
4	chr14:83836384..83839426-chr14:83840437..83842390,3	K562	blood:
5	chr14:83766556..83767082-chr14:83929752..83930344,2	MCF-7	breast:
6	chr14:83856666..83859609-chr14:83873675..83876629,2	K562	blood:

Extended variants
information (count: 2951 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2951 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188923865	chr14:83793409-83793410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376105954	chr14:83793487-83793488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543729063	chr14:83793489-83793490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565205079	chr14:83793490-83793491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182000351	chr14:83793509-83793510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369749578	chr14:83793526-83793527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17118420	chr14:83793543-83793544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113696149	chr14:83793549-83793550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73368841	chr14:83793580-83793581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570051778	chr14:83793598-83793599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537405085	chr14:83793603-83793604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558974148	chr14:83793648-83793649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571591156	chr14:83793665-83793666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538931231	chr14:83793673-83793674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186186355	chr14:83793714-83793715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79244955	chr14:83793730-83793731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190881333	chr14:83793745-83793746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554341123	chr14:83793756-83793757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575648319	chr14:83793775-83793776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17625468	chr14:83793785-83793786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564520369	chr14:83793795-83793796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577167300	chr14:83793804-83793805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148755262	chr14:83793812-83793813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17625494	chr14:83793820-83793821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370410245	chr14:83793839-83793840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564559915	chr14:83793853-83793854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530204171	chr14:83793873-83793874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61982347	chr14:83793874-83793875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563663595	chr14:83793877-83793878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11159588	chr14:83793878-83793879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180983877	chr14:83793892-83793893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1004538	chr14:83793971-83793972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201416451	chr14:83793982-83793983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557852392	chr14:83793986-83793987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372103354	chr14:83793987-83793988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398025962	chr14:83793999-83794000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76609705	chr14:83794000-83794001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529573904	chr14:83794003-83794004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548027713	chr14:83794007-83794008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73368842	chr14:83794014-83794015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370349363	chr14:83794022-83794023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377572057	chr14:83794065-83794066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72629340	chr14:83794086-83794087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1004539	chr14:83794091-83794092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370961600	chr14:83794104-83794105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536026350	chr14:83794116-83794117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142252516	chr14:83794122-83794123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575759709	chr14:83794155-83794156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147458659	chr14:83794178-83794179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199679601	chr14:83794189-83794190	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83793400-83795800	Enhancers	Primary hematopoietic stem cells	blood
2	chr14:83793800-83794800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:83794000-83795000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:83794400-83794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:83794400-83796200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:83794600-83795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:83795600-83796000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:83799600-83800200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:83799600-83800400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:83800000-83800400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:83802400-83803200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:83808800-83809200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:83809000-83809400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:83814000-83814800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:83814200-83814600	Enhancers	HSMM	muscle
16	chr14:83814200-83815000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:83820600-83825000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:83822400-83823200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:83823600-83823800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:83827200-83828000	Enhancers	Ovary	ovary
21	chr14:83834600-83835200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:83834800-83835200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:83844800-83846400	Enhancers	Fetal Stomach	stomach
24	chr14:83845000-83846600	Enhancers	Fetal Lung	lung
25	chr14:83845600-83846200	Enhancers	Rectal Smooth Muscle	rectum
26	chr14:83845600-83846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:83845600-83846400	Enhancers	Adipose Nuclei	Adipose
28	chr14:83845600-83846600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:83845800-83846400	Enhancers	Fetal Brain Female	brain
30	chr14:83845800-83846600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:83845800-83846800	Enhancers	Brain Germinal Matrix	brain
32	chr14:83869800-83870000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:83875200-83876000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:83882000-83883400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:83885800-83886000	Enhancers	HSMM	muscle
36	chr14:83885800-83886200	Enhancers	Fetal Heart	heart
37	chr14:83886000-83888600	Weak transcription	HSMM	muscle
38	chr14:83887800-83890400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:83887800-83890600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:83888200-83889000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:83888600-83889000	Enhancers	HSMM	muscle
42	chr14:83889000-83890200	Weak transcription	HSMM	muscle
43	chr14:83890200-83891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:83890200-83891600	Enhancers	HSMM	muscle
45	chr14:83891000-83891400	Enhancers	HSMMtube	muscle
46	chr14:83891000-83891600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:83891000-83891600	Enhancers	HMEC	breast
48	chr14:83891000-83891800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:83891000-83892600	Enhancers	NHEK	skin
50	chr14:83891000-83892800	Enhancers	Muscle Satellite Cultured Cells	--

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