Variant report

Variant	esv3420283
Chromosome Location	chr14:63861424-63863972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373078120	chr14:63861489-63861490	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3783745	chr14:63861490-63861491	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371415630	chr14:63861562-63861563	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182892220	chr14:63861588-63861589	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557199321	chr14:63861606-63861607	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577122439	chr14:63861622-63861623	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117382059	chr14:63861677-63861678	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552684182	chr14:63861704-63861705	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572830733	chr14:63861719-63861720	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541536068	chr14:63861749-63861750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561784911	chr14:63861758-63861759	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575474060	chr14:63861790-63861791	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3783744	chr14:63861806-63861807	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs146418364	chr14:63861811-63861812	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533076615	chr14:63861858-63861859	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546916356	chr14:63861873-63861874	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186853057	chr14:63861879-63861880	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528516388	chr14:63861888-63861889	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548249485	chr14:63861890-63861891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367568889	chr14:63861941-63861942	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199600492	chr14:63861963-63861964	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191740389	chr14:63862009-63862010	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529204596	chr14:63862013-63862014	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376158177	chr14:63862060-63862061	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371259646	chr14:63862068-63862069	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550757494	chr14:63862071-63862072	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571065502	chr14:63862072-63862073	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74573698	chr14:63862086-63862087	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145804439	chr14:63862106-63862107	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553653819	chr14:63862115-63862116	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150476178	chr14:63862121-63862122	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535456451	chr14:63862127-63862128	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61995000	chr14:63862150-63862151	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs113514737	chr14:63862175-63862176	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199655111	chr14:63862176-63862177	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544371359	chr14:63862183-63862184	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368653666	chr14:63862201-63862202	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369628263	chr14:63862202-63862203	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368647823	chr14:63862207-63862208	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564266153	chr14:63862217-63862218	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577805940	chr14:63862243-63862244	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199970005	chr14:63862256-63862257	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200051025	chr14:63862258-63862259	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200567658	chr14:63862261-63862262	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149604721	chr14:63862278-63862279	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374960622	chr14:63862303-63862304	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367957473	chr14:63862323-63862324	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140085301	chr14:63862330-63862331	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372511091	chr14:63862347-63862348	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564906738	chr14:63862365-63862366	Weak transcription Strong transcription ZNF genes & repeats Enhancers	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Autism	22543975	CNVD
small cell lung cancer	17426248	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63830800-63867000	Weak transcription	Fetal Heart	heart
2	chr14:63835000-63863800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
4	chr14:63839400-63862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:63840000-63864000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:63841800-63871800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:63844400-63861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:63844800-63862000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr14:63846000-63862000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:63846200-63862600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr14:63846200-63862600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:63846400-63862200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:63846400-63863600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:63846400-63867400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:63846600-63862000	Strong transcription	Fetal Intestine Large	intestine
17	chr14:63846800-63861800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:63847000-63862000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:63847200-63862400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:63847400-63862000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:63849000-63868400	Weak transcription	Psoas Muscle	Psoas
22	chr14:63849000-63888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:63849200-63863600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:63850600-63862000	Strong transcription	Left Ventricle	heart
25	chr14:63851000-63863200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:63851000-63863800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:63851000-63871600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:63851200-63886000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:63851200-63902400	Weak transcription	Right Ventricle	heart
30	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:63851600-63866800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:63851800-63863400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr14:63851800-63869000	Strong transcription	Primary B cells from cord blood	blood
35	chr14:63852400-63882200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:63852600-63877000	Weak transcription	Spleen	Spleen
37	chr14:63852600-63899000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr14:63853200-63862600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:63853200-63886600	Weak transcription	NH-A	brain
40	chr14:63853800-63862000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:63853800-63867600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:63854000-63893400	Weak transcription	Fetal Brain Male	brain
43	chr14:63854600-63872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:63854800-63861600	Weak transcription	NHEK	skin
45	chr14:63854800-63867800	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:63854800-63871000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:63854800-63871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:63855000-63864000	Weak transcription	Colonic Mucosa	Colon
50	chr14:63855000-63886000	Weak transcription	Muscle Satellite Cultured Cells	--

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