Variant report

Variant	esv3331208
Chromosome Location	chr14:43824251-43851879
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	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:

Extended variants
information (count: 735 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140984702	chr14:43824281-43824282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1389567	chr14:43824361-43824362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558820022	chr14:43824392-43824393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576928063	chr14:43824407-43824408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190711369	chr14:43824426-43824427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56354506	chr14:43824439-43824440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201711006	chr14:43824508-43824509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572854754	chr14:43824569-43824570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149943197	chr14:43824570-43824571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541844096	chr14:43824600-43824601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117504541	chr14:43824685-43824686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527293658	chr14:43824702-43824703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74050073	chr14:43824721-43824722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527322897	chr14:43824733-43824734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146486307	chr14:43824741-43824742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531034791	chr14:43824745-43824746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12894374	chr14:43824756-43824757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111558727	chr14:43824765-43824766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11157350	chr14:43824775-43824776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73347284	chr14:43824794-43824795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371240746	chr14:43824796-43824797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181902397	chr14:43824807-43824808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547486801	chr14:43824841-43824842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564661580	chr14:43824861-43824862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185829003	chr14:43824896-43824897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539836983	chr14:43824909-43824910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558543452	chr14:43824914-43824915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191767912	chr14:43824921-43824922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533658337	chr14:43824970-43824971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537626376	chr14:43824973-43824974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183181322	chr14:43824982-43824983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574689229	chr14:43824983-43824984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34573792	chr14:43825036-43825037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374071045	chr14:43825045-43825046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553919985	chr14:43825053-43825054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188108297	chr14:43825068-43825069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140967537	chr14:43825105-43825106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564611150	chr14:43825120-43825121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78365445	chr14:43825147-43825148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191475833	chr14:43825157-43825158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12232145	chr14:43825173-43825174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77129497	chr14:43825178-43825179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144901114	chr14:43825180-43825181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547448285	chr14:43825185-43825186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568061937	chr14:43825199-43825200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182446551	chr14:43825238-43825239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528053036	chr14:43825255-43825256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551786757	chr14:43825278-43825279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570644577	chr14:43825281-43825282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569823614	chr14:43825324-43825325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43816600-43829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43825800-43827200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:43826000-43826800	Enhancers	Pancreas	Pancrea
4	chr14:43826000-43827200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr14:43826200-43826800	Enhancers	Fetal Lung	lung
6	chr14:43826800-43828400	Weak transcription	Pancreas	Pancrea
7	chr14:43826800-43830800	Weak transcription	Fetal Lung	lung
8	chr14:43826800-43839400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:43828400-43829800	Enhancers	Pancreas	Pancrea
10	chr14:43829600-43829800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:43829800-43830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:43829800-43831800	Weak transcription	Pancreas	Pancrea
13	chr14:43830800-43831600	Enhancers	Fetal Lung	lung
14	chr14:43831600-43834000	Weak transcription	Fetal Lung	lung
15	chr14:43831800-43832000	Enhancers	Pancreas	Pancrea
16	chr14:43834000-43834200	Enhancers	Fetal Lung	lung
17	chr14:43839000-43840000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr14:43839400-43839800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:43839400-43840000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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