Variant report

Variant	nsv565012
Chromosome Location	chr14:70686916-70689286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70668752..70670788-chr14:70688180..70689726,2	K562	blood:
2	chr14:70683028..70687657-chr14:70688132..70693219,5	K562	blood:
3	chr14:70686436..70688109-chr14:70689739..70691554,2	MCF-7	breast:
4	chr14:70683028..70687657-chr14:70688132..70693219,7	K562	blood:

Variant related genes	Relation type
ENSG00000258422	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8020127	chr14:70686916-70686917	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs8019979	chr14:70686927-70686928	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372148930	chr14:70686944-70686945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539838691	chr14:70686973-70686974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566900124	chr14:70687018-70687019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186289765	chr14:70687034-70687035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150060716	chr14:70687068-70687069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537712422	chr14:70687086-70687087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556343427	chr14:70687111-70687112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138032724	chr14:70687123-70687124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574533233	chr14:70687146-70687147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535580225	chr14:70687170-70687171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577787611	chr14:70687251-70687252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376096674	chr14:70687252-70687253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144365175	chr14:70687253-70687254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557113019	chr14:70687278-70687279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112807306	chr14:70687297-70687298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113406326	chr14:70687298-70687299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9707490	chr14:70687299-70687300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74521877	chr14:70687303-70687304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569816870	chr14:70687321-70687322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571763869	chr14:70687345-70687346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545405590	chr14:70687387-70687388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372897538	chr14:70687477-70687478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34684164	chr14:70687494-70687495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563705527	chr14:70687523-70687524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191112833	chr14:70687525-70687526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141030391	chr14:70687656-70687657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562340260	chr14:70687691-70687692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180714022	chr14:70687712-70687713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538730005	chr14:70687722-70687723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529454852	chr14:70687725-70687726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547915293	chr14:70687738-70687739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528462633	chr14:70687752-70687753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35810879	chr14:70687769-70687770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7142682	chr14:70687803-70687804	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571826598	chr14:70687809-70687810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139706106	chr14:70687835-70687836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376788579	chr14:70687858-70687859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533421836	chr14:70687865-70687866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565392451	chr14:70687869-70687870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs202109065	chr14:70687924-70687925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570036081	chr14:70687960-70687961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553945906	chr14:70688002-70688003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372376719	chr14:70688007-70688008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538166378	chr14:70688124-70688125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1364966	chr14:70688130-70688131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568295310	chr14:70688164-70688165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535295834	chr14:70688168-70688169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145000824	chr14:70688227-70688228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70656400-70688400	Weak transcription	Psoas Muscle	Psoas
2	chr14:70687400-70687800	Enhancers	K562	blood
3	chr14:70687800-70689600	Weak transcription	K562	blood

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