Variant report

Variant	nsv827074
Chromosome Location	chr14:104863063-104863829
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	chr14:104862114..104865269-chr14:104866594..104868712,3	MCF-7	breast:
2	chr14:104860512..104862041-chr14:104863587..104866008,2	K562	blood:

Variant related genes	Relation type
ENSG00000222761	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571880800	chr14:104863070-104863071	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537756428	chr14:104863096-104863097	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368735996	chr14:104863119-104863120	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567664477	chr14:104863145-104863146	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367737612	chr14:104863148-104863149	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373165226	chr14:104863171-104863172	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553230025	chr14:104863204-104863205	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190702092	chr14:104863209-104863210	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538492934	chr14:104863225-104863226	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558734889	chr14:104863261-104863262	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575071125	chr14:104863274-104863275	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181989436	chr14:104863293-104863294	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113304702	chr14:104863332-104863333	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554402931	chr14:104863348-104863349	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs57531775	chr14:104863349-104863350	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372603059	chr14:104863370-104863371	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377306734	chr14:104863410-104863411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs8012327	chr14:104863435-104863436	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545545028	chr14:104863477-104863478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10134501	chr14:104863548-104863549	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531079298	chr14:104863578-104863579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551302258	chr14:104863579-104863580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146088412	chr14:104863580-104863581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57421664	chr14:104863581-104863582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375217384	chr14:104863592-104863593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10134744	chr14:104863598-104863599	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539147505	chr14:104863634-104863635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28718946	chr14:104863650-104863651	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs80083325	chr14:104863663-104863664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575982015	chr14:104863714-104863715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537640151	chr14:104863718-104863719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs8013111	chr14:104863759-104863760	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75554315	chr14:104863761-104863762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539881438	chr14:104863775-104863776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35064921	chr14:104863792-104863793	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201698349	chr14:104863793-104863794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563963744	chr14:104863806-104863807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104851600-104863400	Enhancers	Spleen	Spleen
2	chr14:104857600-104863400	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:104859600-104863400	Weak transcription	Right Atrium	heart
4	chr14:104861200-104863400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:104861200-104863400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:104861400-104863400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:104861800-104863200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr14:104862200-104863200	ZNF genes & repeats	Lung	lung
9	chr14:104862600-104865200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:104862600-104865400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:104862600-104865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:104862800-104865000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:104863000-104865600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:104863000-104865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:104863200-104863400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr14:104863200-104865600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:104863400-104865200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:104863400-104865200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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