Variant report

Variant	esv3521888
Chromosome Location	chr14:40113902-40114834
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	chr14:40113782..40115697-chr14:40124325..40126766,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79917800	chr14:40113929-40113930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532997609	chr14:40113930-40113931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546603429	chr14:40113949-40113950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566448427	chr14:40114007-40114008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535553498	chr14:40114008-40114009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555129631	chr14:40114011-40114012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568643433	chr14:40114091-40114092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537246156	chr14:40114108-40114109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151033736	chr14:40114125-40114126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577108536	chr14:40114135-40114136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77497011	chr14:40114158-40114159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367841781	chr14:40114162-40114163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368552410	chr14:40114172-40114173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552968076	chr14:40114174-40114175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs730856	chr14:40114213-40114214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542320681	chr14:40114225-40114226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561995722	chr14:40114228-40114229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530781318	chr14:40114234-40114235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs730855	chr14:40114239-40114240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564407627	chr14:40114244-40114245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533287243	chr14:40114246-40114247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs730857	chr14:40114247-40114248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560199424	chr14:40114272-40114273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371796220	chr14:40114274-40114275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569186624	chr14:40114277-40114278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549106738	chr14:40114283-40114284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78765973	chr14:40114319-40114320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537683753	chr14:40114320-40114321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12437398	chr14:40114346-40114347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570687146	chr14:40114381-40114382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539762983	chr14:40114408-40114409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532658675	chr14:40114470-40114471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573195219	chr14:40114529-40114530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535479434	chr14:40114553-40114554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555870567	chr14:40114572-40114573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575635088	chr14:40114667-40114668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547450104	chr14:40114683-40114684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2899894	chr14:40114689-40114690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549161583	chr14:40114714-40114715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181972704	chr14:40114768-40114769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138560644	chr14:40114814-40114815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12878554	chr14:40114827-40114828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10140236	chr14:40114830-40114831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40112200-40115200	Weak transcription	Psoas Muscle	Psoas
2	chr14:40113600-40116800	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links