Variant report

Variant	esv3441858
Chromosome Location	chr14:31850145-31850637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537604130	chr14:31850183-31850184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61996784	chr14:31850192-31850193	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs146382979	chr14:31850222-31850223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556887229	chr14:31850223-31850224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139815415	chr14:31850226-31850227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143216698	chr14:31850251-31850252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112264846	chr14:31850278-31850279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56705300	chr14:31850279-31850280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34686612	chr14:31850310-31850311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573068304	chr14:31850314-31850315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139234862	chr14:31850370-31850371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142550590	chr14:31850395-31850396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573854283	chr14:31850416-31850417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118181747	chr14:31850420-31850421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563687698	chr14:31850428-31850429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575678033	chr14:31850445-31850446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150988908	chr14:31850495-31850496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552290643	chr14:31850515-31850516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185475264	chr14:31850527-31850528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376195239	chr14:31850533-31850534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553945986	chr14:31850589-31850590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562265856	chr14:31850626-31850627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Esophageal cancer	20955586	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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
5	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
10	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
18	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
19	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
22	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
23	chr14:31825800-31860200	Weak transcription	Psoas Muscle	Psoas
24	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
25	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
26	chr14:31828200-31852600	Weak transcription	Fetal Brain Female	brain
27	chr14:31830600-31862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:31833800-31854400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:31837000-31853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:31837000-31858400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:31837200-31852800	Strong transcription	Placenta	Placenta
32	chr14:31837200-31871800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:31838000-31852400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:31838000-31857200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:31838000-31875000	Weak transcription	K562	blood
36	chr14:31838600-31852600	Weak transcription	Brain Substantia Nigra	brain
37	chr14:31839000-31862400	Weak transcription	Ovary	ovary
38	chr14:31840400-31850800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:31841000-31851000	Strong transcription	Fetal Stomach	stomach
40	chr14:31841000-31856000	Strong transcription	Fetal Intestine Large	intestine
41	chr14:31841200-31850800	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:31841400-31850600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:31841400-31864800	Weak transcription	NHEK	skin
44	chr14:31841400-31872800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:31841600-31851000	Strong transcription	Fetal Intestine Small	intestine
46	chr14:31841600-31853400	Weak transcription	Primary T cells from cord blood	blood
47	chr14:31841600-31872200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:31842000-31855800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:31842400-31852000	Weak transcription	Brain Anterior Caudate	brain
50	chr14:31842600-31852200	Weak transcription	NH-A	brain

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