Variant report

Variant	esv3336004
Chromosome Location	chr14:97211860-97212215
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	chr14:97211622..97213197-chr14:97215486..97218319,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373737389	chr14:97211861-97211862	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542167366	chr14:97211895-97211896	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150823821	chr14:97211904-97211905	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34142794	chr14:97211932-97211933	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11160363	chr14:97211941-97211942	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563536113	chr14:97211948-97211949	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61979852	chr14:97211958-97211959	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113525376	chr14:97211962-97211963	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75293501	chr14:97211964-97211965	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549247017	chr14:97211982-97211983	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72708758	chr14:97212007-97212008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192570919	chr14:97212011-97212012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546383044	chr14:97212013-97212014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551236700	chr14:97212024-97212025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12184956	chr14:97212051-97212052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538730055	chr14:97212053-97212054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557242886	chr14:97212078-97212079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77785455	chr14:97212081-97212082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536585619	chr14:97212082-97212083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374180892	chr14:97212092-97212093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117129588	chr14:97212097-97212098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117432145	chr14:97212104-97212105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78586873	chr14:97212118-97212119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71419295	chr14:97212125-97212126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75734259	chr14:97212127-97212128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs66487336	chr14:97212161-97212162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs578082941	chr14:97212162-97212163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185064576	chr14:97212193-97212194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563572407	chr14:97212198-97212199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377155807	chr14:97212204-97212205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530972490	chr14:97212208-97212209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Glioblastoma	21080181	CNVD
Cancer	20164920	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Breast cancer	21509527	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	17426248	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97208800-97213200	Weak transcription	Fetal Brain Male	brain
2	chr14:97209200-97213000	Weak transcription	Fetal Brain Female	brain
3	chr14:97211800-97212000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr14:97212000-97213400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:97212200-97212400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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