Variant report

Variant	nsv456414
Chromosome Location	chr14:97516313-97550836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:97269964..97272713-chr14:97520420..97522820,2	K562	blood:
2	chr14:97539439..97541387-chr14:97544260..97546200,2	K562	blood:
3	chr14:97544086..97546933-chr14:97548752..97550562,2	K562	blood:
4	chr14:97544852..97547266-chr14:97555136..97557458,2	MCF-7	breast:
5	chr14:97549993..97552425-chr14:97577946..97579457,2	K562	blood:
6	chr14:97539439..97541387-chr14:97544260..97546200,2	K562	blood:
7	chr14:97544086..97546933-chr14:97548752..97550562,2	K562	blood:

Extended variants
information (count: 1514 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1514 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1884062	chr14:97516313-97516314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200882087	chr14:97516323-97516324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79061470	chr14:97516377-97516378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538034164	chr14:97516396-97516397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187428410	chr14:97516397-97516398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189879381	chr14:97516405-97516406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575202337	chr14:97516412-97516413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536107174	chr14:97516429-97516430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144172290	chr14:97516434-97516435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572036642	chr14:97516475-97516476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1884063	chr14:97516512-97516513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs151144328	chr14:97516537-97516538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140154369	chr14:97516550-97516551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150320865	chr14:97516760-97516761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561692287	chr14:97516820-97516821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115792334	chr14:97516863-97516864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532807830	chr14:97516866-97516867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560131819	chr14:97516901-97516902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527654323	chr14:97516905-97516906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548702564	chr14:97516926-97516927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563132408	chr14:97517000-97517001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138005598	chr14:97517004-97517005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17762577	chr14:97517062-97517063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182046207	chr14:97517063-97517064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568627843	chr14:97517077-97517078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186299472	chr14:97517087-97517088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140652732	chr14:97517106-97517107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145830671	chr14:97517110-97517111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548284946	chr14:97517137-97517138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369208474	chr14:97517179-97517180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539045025	chr14:97517192-97517193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17094884	chr14:97517208-97517209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375650330	chr14:97517236-97517237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113207188	chr14:97517251-97517252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190363027	chr14:97517276-97517277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143082480	chr14:97517284-97517285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12884663	chr14:97517316-97517317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559201325	chr14:97517334-97517335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527720673	chr14:97517363-97517364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538400502	chr14:97517483-97517484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374529212	chr14:97517485-97517486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564651362	chr14:97517501-97517502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141441340	chr14:97517539-97517540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28759278	chr14:97517574-97517575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182292270	chr14:97517576-97517577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185482780	chr14:97517597-97517598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150846091	chr14:97517598-97517599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537796049	chr14:97517599-97517600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554251246	chr14:97517626-97517627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535973717	chr14:97517647-97517648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97500800-97543600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:97514000-97519400	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:97514600-97518400	Weak transcription	Fetal Brain Male	brain
4	chr14:97517000-97517200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr14:97517200-97522400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:97518400-97518600	ZNF genes & repeats	Fetal Kidney	kidney
7	chr14:97518400-97518800	Enhancers	Fetal Brain Male	brain
8	chr14:97518600-97522600	Weak transcription	Fetal Kidney	kidney
9	chr14:97518800-97522000	Weak transcription	Fetal Brain Male	brain
10	chr14:97519400-97520000	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:97519400-97520000	Enhancers	Fetal Muscle Leg	muscle
12	chr14:97520800-97521600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:97521000-97521800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:97521000-97521800	Enhancers	Brain Germinal Matrix	brain
15	chr14:97521600-97522200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:97521800-97522200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:97521800-97522200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr14:97522000-97522800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:97522000-97522800	Enhancers	Fetal Brain Female	brain
20	chr14:97522000-97523600	Enhancers	Fetal Thymus	thymus
21	chr14:97522000-97525000	Enhancers	Fetal Brain Male	brain
22	chr14:97522200-97523400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:97522200-97523400	Enhancers	Brain Germinal Matrix	brain
24	chr14:97522200-97523600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:97522400-97522600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:97522400-97522800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr14:97522600-97522800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
28	chr14:97522600-97522800	Enhancers	Fetal Kidney	kidney
29	chr14:97522800-97524400	Weak transcription	Fetal Brain Female	brain
30	chr14:97523400-97524400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:97523600-97524600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:97524400-97524600	Enhancers	Fetal Brain Female	brain
33	chr14:97524400-97525000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:97524600-97524800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:97527400-97527600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:97527800-97529000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:97528800-97530000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:97529000-97529400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:97529400-97532600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:97531400-97532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:97531400-97532200	Enhancers	NHEK	skin
42	chr14:97531600-97532400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:97532600-97533000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:97533000-97538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:97536000-97538000	Enhancers	Brain Germinal Matrix	brain
46	chr14:97536000-97538000	Enhancers	Fetal Brain Male	brain
47	chr14:97536200-97538000	Enhancers	Fetal Brain Female	brain
48	chr14:97537200-97538800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr14:97537400-97537800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:97537600-97538200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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