Variant report

Variant	esv3530562
Chromosome Location	chr14:31458824-31459787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31458647..31460710-chr14:31463564..31465601,2	K562	blood:
2	chr14:31457071..31460059-chr14:31491796..31493863,2	MCF-7	breast:
3	chr14:31458519..31461343-chr14:31465487..31467458,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530462164	chr14:31458845-31458846	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145314079	chr14:31458858-31458859	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147664372	chr14:31458886-31458887	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142373635	chr14:31458891-31458892	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183717943	chr14:31458939-31458940	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570541849	chr14:31458943-31458944	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369019320	chr14:31458944-31458945	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534503863	chr14:31458946-31458947	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146387192	chr14:31458960-31458961	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574389673	chr14:31459033-31459034	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535401270	chr14:31459046-31459047	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11622687	chr14:31459129-31459130	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372344344	chr14:31459184-31459185	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113487040	chr14:31459208-31459209	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80293277	chr14:31459210-31459211	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138108569	chr14:31459212-31459213	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67806157	chr14:31459213-31459214	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149302514	chr14:31459215-31459216	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58370803	chr14:31459233-31459234	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201953588	chr14:31459234-31459235	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575984194	chr14:31459287-31459288	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188239842	chr14:31459313-31459314	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376915634	chr14:31459342-31459343	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369004878	chr14:31459372-31459373	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527963539	chr14:31459384-31459385	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34799735	chr14:31459386-31459387	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367984685	chr14:31459391-31459392	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371916743	chr14:31459438-31459439	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374912674	chr14:31459450-31459451	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34638403	chr14:31459461-31459462	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548749075	chr14:31459462-31459463	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559472728	chr14:31459509-31459510	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140510570	chr14:31459513-31459514	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559935027	chr14:31459532-31459533	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369494756	chr14:31459606-31459607	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373688480	chr14:31459610-31459611	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563993018	chr14:31459616-31459617	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530483342	chr14:31459617-31459618	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552184386	chr14:31459618-31459619	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11846086	chr14:31459620-31459621	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193274388	chr14:31459628-31459629	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546469227	chr14:31459646-31459647	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560930954	chr14:31459665-31459666	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535274758	chr14:31459670-31459671	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556811099	chr14:31459769-31459770	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199863979	chr14:31459784-31459785	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
3	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
6	chr14:31442400-31494400	Weak transcription	Gastric	stomach
7	chr14:31443000-31459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:31443200-31460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:31443400-31460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:31444200-31459800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
15	chr14:31444400-31460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:31445000-31460600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:31445800-31459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:31446600-31459800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:31446600-31461600	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:31449400-31460800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:31451200-31464200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:31452000-31460400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:31452200-31460600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:31452600-31459800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:31453800-31460000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:31453800-31460600	Weak transcription	Primary B cells from cord blood	blood
27	chr14:31454800-31462800	Weak transcription	Fetal Intestine Small	intestine
28	chr14:31455200-31459800	Weak transcription	GM12878-XiMat	blood
29	chr14:31455200-31466400	Weak transcription	Primary T cells from cord blood	blood
30	chr14:31455600-31460800	Weak transcription	Small Intestine	intestine
31	chr14:31455800-31460000	Weak transcription	Fetal Kidney	kidney
32	chr14:31455800-31460000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:31456000-31459800	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:31456000-31464400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:31456000-31465200	Weak transcription	Brain Angular Gyrus	brain
36	chr14:31456200-31459800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr14:31457000-31461000	Genic enhancers	HepG2	liver
38	chr14:31457000-31461200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:31457200-31460200	Weak transcription	Adipose Nuclei	Adipose
40	chr14:31457200-31460600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:31457200-31465000	Weak transcription	Pancreas	Pancrea
42	chr14:31457200-31467600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:31457400-31467200	Weak transcription	Dnd41	blood
44	chr14:31457600-31460000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:31457600-31464200	Weak transcription	Fetal Lung	lung
46	chr14:31457600-31467200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr14:31458000-31459200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:31458000-31460600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:31458200-31459600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:31458200-31463800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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