Variant report

Variant	esv3341244
Chromosome Location	chr14:38193651-38195599
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	chr14:38183316..38184942-chr14:38193354..38194927,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534096467	chr14:38193703-38193704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139750745	chr14:38193730-38193731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189326771	chr14:38193740-38193741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4901143	chr14:38193741-38193742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555729810	chr14:38193759-38193760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575590799	chr14:38193804-38193805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544991802	chr14:38193841-38193842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558340972	chr14:38193855-38193856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541146287	chr14:38193861-38193862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192415342	chr14:38193871-38193872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572121405	chr14:38193884-38193885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559909718	chr14:38193946-38193947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540852304	chr14:38193950-38193951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34548330	chr14:38193960-38193961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183900583	chr14:38193978-38193979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188627574	chr14:38194000-38194001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200953953	chr14:38194057-38194058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34543736	chr14:38194107-38194108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372083592	chr14:38194160-38194161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563719381	chr14:38194212-38194213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181407904	chr14:38194214-38194215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71407722	chr14:38194294-38194295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186084404	chr14:38194401-38194402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71433920	chr14:38194443-38194444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565216988	chr14:38194444-38194445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370085523	chr14:38194452-38194453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375103319	chr14:38194478-38194479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190003299	chr14:38194497-38194498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182230929	chr14:38194501-38194502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527810913	chr14:38194503-38194504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61712288	chr14:38194515-38194516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56829298	chr14:38194517-38194518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372688925	chr14:38194526-38194527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376926283	chr14:38194529-38194530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370509442	chr14:38194537-38194538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372728134	chr14:38194544-38194545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187235828	chr14:38194553-38194554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs36002901	chr14:38194562-38194563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577304374	chr14:38194565-38194566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71407723	chr14:38194660-38194661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs71407724	chr14:38194677-38194678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs71407725	chr14:38194680-38194681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550012965	chr14:38194694-38194695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550160125	chr14:38194700-38194701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71407726	chr14:38194711-38194712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145684560	chr14:38194765-38194766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71407727	chr14:38194774-38194775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572024315	chr14:38194812-38194813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190056491	chr14:38194862-38194863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145656947	chr14:38194890-38194891	Weak transcription	n/a	n/a	Overlapped CNVs	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	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38180400-38212600	Weak transcription	Liver	Liver
2	chr14:38191800-38210800	Weak transcription	HepG2	liver

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