Variant report

Variant	esv2448337
Chromosome Location	chr14:31393451-31393451
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	chr14:31385237..31388114-chr14:31390780..31394488,3	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71112353	chr14:31393451-31393452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
4	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
6	chr14:31360200-31435600	Weak transcription	Gastric	stomach
7	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
8	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
10	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
13	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
15	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
17	chr14:31370000-31393600	Weak transcription	Lung	lung
18	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
19	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
21	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
24	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
25	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:31379000-31393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:31379000-31393600	Weak transcription	Fetal Intestine Small	intestine
28	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
35	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
37	chr14:31380600-31402600	Weak transcription	HMEC	breast
38	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:31381200-31393800	Weak transcription	Fetal Lung	lung
41	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
42	chr14:31381400-31393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:31381400-31393800	Weak transcription	Fetal Kidney	kidney
44	chr14:31381400-31402200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr14:31381400-31402200	Weak transcription	Fetal Thymus	thymus
46	chr14:31381400-31402200	Weak transcription	Left Ventricle	heart
47	chr14:31381400-31402200	Weak transcription	Ovary	ovary
48	chr14:31381400-31403200	Weak transcription	Primary T cells from cord blood	blood
49	chr14:31381400-31403200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:31381400-31403200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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