Variant report

Variant	nsv974458
Chromosome Location	chr14:39365606-39374972
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	chr14:39366197..39366930-chr7:100486909..100487549,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176125	chromatin interactions

Extended variants
information (count: 321 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112470228	chr14:39365642-39365643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374999502	chr14:39365648-39365649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564617326	chr14:39365649-39365650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540274366	chr14:39365695-39365696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368748633	chr14:39365711-39365712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560264793	chr14:39365718-39365719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186933177	chr14:39365723-39365724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549427073	chr14:39365727-39365728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560126837	chr14:39365746-39365747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77314020	chr14:39365772-39365773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191428052	chr14:39365785-39365786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551995027	chr14:39365798-39365799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17108525	chr14:39365804-39365805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149262805	chr14:39365867-39365868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371169492	chr14:39365909-39365910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547405995	chr14:39365912-39365913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546982255	chr14:39365928-39365929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567168530	chr14:39365936-39365937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112993890	chr14:39365952-39365953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372165373	chr14:39365956-39365957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377306618	chr14:39365957-39365958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551080518	chr14:39365960-39365961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538483648	chr14:39365961-39365962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12883029	chr14:39365996-39365997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577741146	chr14:39366003-39366004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540354286	chr14:39366021-39366022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539441456	chr14:39366045-39366046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554203082	chr14:39366053-39366054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573972464	chr14:39366081-39366082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183702563	chr14:39366109-39366110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563215566	chr14:39366137-39366138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532040032	chr14:39366141-39366142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142968035	chr14:39366148-39366149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561225066	chr14:39366162-39366163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558091982	chr14:39366186-39366187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377281475	chr14:39366194-39366195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527854951	chr14:39366205-39366206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187644129	chr14:39366216-39366217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547201013	chr14:39366259-39366260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567311426	chr14:39366308-39366309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529664509	chr14:39366323-39366324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573157547	chr14:39366328-39366329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76795343	chr14:39366386-39366387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146135667	chr14:39366415-39366416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs538522313	chr14:39366432-39366433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540604587	chr14:39366454-39366455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565553678	chr14:39366498-39366499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534788473	chr14:39366552-39366553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56411715	chr14:39366587-39366588	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376074716	chr14:39366599-39366600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39350600-39369600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr14:39368800-39370400	Enhancers	Brain Substantia Nigra	brain
3	chr14:39368800-39370600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr14:39369000-39370600	Enhancers	Brain Hippocampus Middle	brain
5	chr14:39369600-39370200	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:39370000-39371400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:39370200-39370800	Enhancers	Stomach Mucosa	stomach
8	chr14:39370400-39375600	Weak transcription	Brain Substantia Nigra	brain
9	chr14:39370600-39378200	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:39371200-39371800	Enhancers	Psoas Muscle	Psoas

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