Variant report

Variant	nsv977416
Chromosome Location	chr14:67018846-67023147
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	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543949423	chr14:67018879-67018880	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188548014	chr14:67018900-67018901	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs151211977	chr14:67018905-67018906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548044350	chr14:67018911-67018912	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs369230574	chr14:67019034-67019035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs545817800	chr14:67019153-67019154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371554722	chr14:67019159-67019160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376622053	chr14:67019247-67019248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7153148	chr14:67019305-67019306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369866813	chr14:67019380-67019381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528456040	chr14:67019386-67019387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566354485	chr14:67019393-67019394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540180855	chr14:67019473-67019474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373023357	chr14:67019517-67019518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548974809	chr14:67019555-67019556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376191778	chr14:67019575-67019576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550715056	chr14:67019587-67019588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570473945	chr14:67019603-67019604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539567964	chr14:67019633-67019634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553089248	chr14:67019635-67019636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76909168	chr14:67019666-67019667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535441903	chr14:67019680-67019681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565833150	chr14:67019690-67019691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555306239	chr14:67019705-67019706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72724583	chr14:67019738-67019739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369610656	chr14:67019739-67019740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140303254	chr14:67019758-67019759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386778427	chr14:67019770-67019771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369898369	chr14:67019777-67019778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111382778	chr14:67019787-67019788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112314644	chr14:67019790-67019791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180900349	chr14:67019795-67019796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559414843	chr14:67019856-67019857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146983289	chr14:67019881-67019882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541779309	chr14:67019898-67019899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565900622	chr14:67019899-67019900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530803816	chr14:67019907-67019908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550578030	chr14:67019960-67019961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370264314	chr14:67019978-67019979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533152148	chr14:67019981-67019982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113886985	chr14:67019999-67020000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114319654	chr14:67020003-67020004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535454133	chr14:67020021-67020022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185907496	chr14:67020024-67020025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570385256	chr14:67020091-67020092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76665433	chr14:67020102-67020103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190585836	chr14:67020119-67020120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577066633	chr14:67020122-67020123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539595417	chr14:67020169-67020170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553057823	chr14:67020195-67020196	Weak transcription	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67011000-67033600	Weak transcription	Psoas Muscle	Psoas
2	chr14:67011200-67022000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:67011200-67033400	Weak transcription	Liver	Liver
4	chr14:67014800-67020000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:67014800-67025200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:67015600-67021600	Weak transcription	Adipose Nuclei	Adipose
7	chr14:67016200-67023000	Weak transcription	Fetal Brain Male	brain
8	chr14:67017600-67019200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:67019200-67019400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:67022000-67022200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:67022200-67022800	Enhancers	A549	lung

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