Variant report

Variant	nsv520014
Chromosome Location	chr14:84311967-84336944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:
2	chr14:84305420..84308089-chr14:84313303..84315570,2	MCF-7	breast:

Extended variants
information (count: 828 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7140996	chr14:84311967-84311968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs8003919	chr14:84311989-84311990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74068259	chr14:84312065-84312066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577946587	chr14:84312077-84312078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542354413	chr14:84312095-84312096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184182753	chr14:84312096-84312097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554151914	chr14:84312124-84312125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74068260	chr14:84312159-84312160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543147391	chr14:84312168-84312169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561465060	chr14:84312178-84312179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576753698	chr14:84312188-84312189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149274750	chr14:84312219-84312220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565470993	chr14:84312234-84312235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532863853	chr14:84312261-84312262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540626292	chr14:84312277-84312278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116615556	chr14:84312288-84312289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370384658	chr14:84312311-84312312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146922835	chr14:84312356-84312357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369339434	chr14:84312409-84312410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560602322	chr14:84312451-84312452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547920180	chr14:84312463-84312464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371303436	chr14:84312498-84312499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530644053	chr14:84312524-84312525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552370844	chr14:84312539-84312540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576615752	chr14:84312571-84312572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116933586	chr14:84312572-84312573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190728417	chr14:84312582-84312583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553834463	chr14:84312658-84312659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1756288	chr14:84312668-84312669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372442885	chr14:84312672-84312673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371234402	chr14:84312722-84312723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79268065	chr14:84312765-84312766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77325527	chr14:84312766-84312767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536735166	chr14:84312776-84312777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11353527	chr14:84312778-84312779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137881762	chr14:84312902-84312903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576690474	chr14:84312907-84312908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181973407	chr14:84312939-84312940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559124855	chr14:84312956-84312957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184629064	chr14:84312976-84312977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189096557	chr14:84313016-84313017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181602828	chr14:84313019-84313020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529673499	chr14:84313024-84313025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571089539	chr14:84313032-84313033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541502391	chr14:84313071-84313072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531872588	chr14:84313077-84313078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185656265	chr14:84313079-84313080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375375381	chr14:84313096-84313097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530645074	chr14:84313109-84313110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552044678	chr14:84313112-84313113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84309400-84313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:84309600-84315200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:84313200-84314200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:84313800-84314200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:84315800-84316400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:84315800-84316600	Enhancers	Fetal Brain Female	brain
7	chr14:84315800-84317200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:84316400-84316800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:84316400-84316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:84316400-84317000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:84320400-84320800	Enhancers	Hela-S3	cervix
12	chr14:84320800-84321800	Weak transcription	Hela-S3	cervix
13	chr14:84321800-84324000	Enhancers	Hela-S3	cervix
14	chr14:84322000-84323000	Enhancers	Fetal Kidney	kidney
15	chr14:84323600-84323800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:84323800-84329400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:84324000-84325000	Weak transcription	Hela-S3	cervix
18	chr14:84325000-84325600	Enhancers	Hela-S3	cervix
19	chr14:84325600-84327000	Weak transcription	Hela-S3	cervix
20	chr14:84327000-84327400	Flanking Active TSS	Hela-S3	cervix
21	chr14:84327400-84328400	Enhancers	Hela-S3	cervix
22	chr14:84329200-84329600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:84329200-84329600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:84329200-84330200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:84329200-84330400	Enhancers	Ovary	ovary
26	chr14:84329400-84329800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:84329400-84329800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:84329600-84329800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:84329600-84329800	Enhancers	Fetal Brain Female	brain
30	chr14:84329600-84330000	Enhancers	Stomach Mucosa	stomach
31	chr14:84329800-84330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:84329800-84330400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:84329800-84331000	Enhancers	Fetal Stomach	stomach
34	chr14:84329800-84331200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr14:84330000-84336200	Weak transcription	Fetal Brain Female	brain
36	chr14:84330200-84330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:84330400-84330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:84330400-84332200	Enhancers	Fetal Brain Male	brain
39	chr14:84330400-84333800	Weak transcription	Ovary	ovary
40	chr14:84330600-84331000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:84331000-84332200	Weak transcription	Fetal Stomach	stomach
42	chr14:84332200-84332600	Weak transcription	Fetal Brain Male	brain
43	chr14:84332200-84334600	Enhancers	Fetal Stomach	stomach
44	chr14:84332600-84332800	Enhancers	Fetal Brain Male	brain
45	chr14:84332800-84334000	Weak transcription	Fetal Brain Male	brain
46	chr14:84333400-84334600	Enhancers	Fetal Heart	heart
47	chr14:84333600-84333800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:84333800-84334200	Enhancers	Brain Germinal Matrix	brain
49	chr14:84333800-84334200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:84333800-84334600	Enhancers	Fetal Muscle Leg	muscle

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