Variant report

Variant	nsv977475
Chromosome Location	chr14:64068246-64070579
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	chr14:64061679..64063280-chr14:64068459..64070422,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYNE2-4	chr14:64068227-64068532	NONHSAT037306

Variant related genes	Relation type
ENSG00000270878	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576996545	chr14:64068266-64068267	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs539660885	chr14:64068276-64068277	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs141955067	chr14:64068278-64068279	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573487076	chr14:64068284-64068285	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541460464	chr14:64068347-64068348	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs547966787	chr14:64068349-64068350	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs113678556	chr14:64068365-64068366	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs138514413	chr14:64068376-64068377	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564183303	chr14:64068393-64068394	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533118844	chr14:64068413-64068414	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs113293356	chr14:64068414-64068415	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546819518	chr14:64068415-64068416	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs560183645	chr14:64068419-64068420	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567707699	chr14:64068473-64068474	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs144096477	chr14:64068475-64068476	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs185174866	chr14:64068478-64068479	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs563575652	chr14:64068543-64068544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532349930	chr14:64068561-64068562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374522125	chr14:64068622-64068623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537072813	chr14:64068670-64068671	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550626543	chr14:64068725-64068726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs570623688	chr14:64068756-64068757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7160317	chr14:64068806-64068807	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs553199094	chr14:64068832-64068833	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116744520	chr14:64068846-64068847	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536173271	chr14:64068886-64068887	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374025943	chr14:64068889-64068890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376883484	chr14:64068909-64068910	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575140583	chr14:64068930-64068931	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1272711	chr14:64068937-64068938	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544233025	chr14:64068965-64068966	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7142943	chr14:64068966-64068967	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs577859533	chr14:64069064-64069065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1271026	chr14:64069069-64069070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147292103	chr14:64069081-64069082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148355331	chr14:64069116-64069117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529155288	chr14:64069130-64069131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188312859	chr14:64069145-64069146	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs58161137	chr14:64069203-64069204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542881073	chr14:64069261-64069262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8007512	chr14:64069288-64069289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539015001	chr14:64069306-64069307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181919040	chr14:64069319-64069320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187661164	chr14:64069320-64069321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570611356	chr14:64069333-64069334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12881318	chr14:64069382-64069383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191533277	chr14:64069390-64069391	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183786751	chr14:64069406-64069407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12881187	chr14:64069421-64069422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567023685	chr14:64069430-64069431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
3	chr14:64062200-64068600	Weak transcription	Fetal Stomach	stomach
4	chr14:64062200-64070000	Weak transcription	Fetal Brain Female	brain
5	chr14:64062200-64070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:64062200-64071600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:64062200-64077800	Weak transcription	Esophagus	oesophagus
8	chr14:64062200-64082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:64062600-64107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:64062800-64105400	Weak transcription	Hela-S3	cervix
12	chr14:64063000-64069400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:64063200-64072200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:64063200-64092800	Weak transcription	Aorta	Aorta
15	chr14:64063400-64098600	Weak transcription	Small Intestine	intestine
16	chr14:64063600-64069200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:64063600-64071000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:64063800-64069200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:64063800-64070600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:64064200-64070800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:64064200-64071800	Weak transcription	Fetal Heart	heart
22	chr14:64064400-64068600	Strong transcription	Dnd41	blood
23	chr14:64064600-64068400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:64064600-64068400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:64064600-64069200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:64064800-64068400	Strong transcription	Primary B cells from cord blood	blood
27	chr14:64064800-64069000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:64064800-64081000	Weak transcription	NHLF	lung
29	chr14:64065000-64068800	Weak transcription	Fetal Intestine Small	intestine
30	chr14:64065200-64069000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr14:64065400-64068400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr14:64065400-64069200	Strong transcription	Liver	Liver
33	chr14:64065400-64071200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:64065600-64069200	Strong transcription	Left Ventricle	heart
35	chr14:64065800-64081000	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:64066000-64081200	Weak transcription	NHDF-Ad	bronchial
37	chr14:64066000-64081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:64066200-64069000	Weak transcription	HMEC	breast
39	chr14:64066200-64070200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:64066200-64076800	Weak transcription	Placenta	Placenta
41	chr14:64066200-64080400	Weak transcription	HUVEC	blood vessel
42	chr14:64066200-64080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:64066200-64081400	Weak transcription	Brain Anterior Caudate	brain
44	chr14:64066200-64081600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:64066200-64081600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:64066200-64082000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:64066200-64083800	Weak transcription	Lung	lung
48	chr14:64066200-64084200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:64066200-64086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:64066200-64097400	Weak transcription	Gastric	stomach

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