Variant report

Variant	nsv456443
Chromosome Location	chr14:104764853-104769149
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	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:

Extended variants
information (count: 317 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4906434	chr14:104764853-104764854	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs563472347	chr14:104764860-104764861	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529180499	chr14:104764888-104764889	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs112981806	chr14:104764960-104764961	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs140834886	chr14:104764966-104764967	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs142364821	chr14:104764972-104764973	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs551161331	chr14:104765029-104765030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571038599	chr14:104765051-104765052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs4906435	chr14:104765052-104765053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs556695149	chr14:104765091-104765092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576708482	chr14:104765106-104765107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs191260962	chr14:104765115-104765116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140465754	chr14:104765123-104765124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374027493	chr14:104765133-104765134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs67687416	chr14:104765145-104765146	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368857956	chr14:104765151-104765152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201432754	chr14:104765181-104765182	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148761039	chr14:104765184-104765185	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541151167	chr14:104765208-104765209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199910295	chr14:104765223-104765224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564391525	chr14:104765226-104765227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578039830	chr14:104765245-104765246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374366471	chr14:104765257-104765258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543282618	chr14:104765259-104765260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199549720	chr14:104765273-104765274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12880037	chr14:104765276-104765277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71421288	chr14:104765284-104765285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369445721	chr14:104765288-104765289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373503639	chr14:104765360-104765361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377724841	chr14:104765364-104765365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376284243	chr14:104765367-104765368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370582765	chr14:104765372-104765373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374253471	chr14:104765375-104765376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202219555	chr14:104765376-104765377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111206908	chr14:104765380-104765381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111206909	chr14:104765384-104765385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11625590	chr14:104765397-104765398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57349260	chr14:104765444-104765445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151298955	chr14:104765459-104765460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368778354	chr14:104765479-104765480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57385946	chr14:104765483-104765484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199602605	chr14:104765491-104765492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372439868	chr14:104765516-104765517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374357290	chr14:104765520-104765521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111217213	chr14:104765539-104765540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57510206	chr14:104765542-104765543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200249814	chr14:104765552-104765553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60030253	chr14:104765553-104765554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371602858	chr14:104765556-104765557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111473636	chr14:104765560-104765561	Weak transcription	n/a	n/a	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104759000-104766400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:104763200-104766000	Weak transcription	Fetal Lung	lung
3	chr14:104763400-104765000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:104763600-104766400	Weak transcription	HUVEC	blood vessel
5	chr14:104764000-104766400	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:104764200-104766200	Weak transcription	Hela-S3	cervix
7	chr14:104764400-104765800	Weak transcription	Ovary	ovary
8	chr14:104764800-104765000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr14:104764800-104765000	ZNF genes & repeats	Lung	lung
10	chr14:104764800-104765200	ZNF genes & repeats	Spleen	Spleen
11	chr14:104765000-104766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:104765000-104766400	Weak transcription	Lung	lung
13	chr14:104765200-104766400	Weak transcription	Spleen	Spleen
14	chr14:104765800-104766000	Enhancers	Ovary	ovary
15	chr14:104766000-104766400	Weak transcription	Ovary	ovary
16	chr14:104766000-104767200	Enhancers	Fetal Lung	lung
17	chr14:104766200-104766400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr14:104766200-104766400	Enhancers	Hela-S3	cervix
19	chr14:104766200-104766600	Enhancers	Adipose Nuclei	Adipose
20	chr14:104766200-104766600	Enhancers	Left Ventricle	heart
21	chr14:104766200-104766800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr14:104766400-104766600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:104766400-104766600	Enhancers	Ovary	ovary
24	chr14:104766400-104766600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:104766400-104766800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:104766400-104766800	Enhancers	Brain Germinal Matrix	brain
27	chr14:104766400-104766800	Enhancers	Fetal Muscle Leg	muscle
28	chr14:104766400-104766800	Active TSS	Hela-S3	cervix
29	chr14:104766400-104767000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:104766400-104767000	Enhancers	HUVEC	blood vessel
31	chr14:104766400-104767200	Enhancers	Gastric	stomach
32	chr14:104766400-104767200	Enhancers	Lung	lung
33	chr14:104766400-104767200	Enhancers	Right Ventricle	heart
34	chr14:104766400-104767200	Enhancers	Spleen	Spleen
35	chr14:104766600-104766800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:104766600-104766800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr14:104766600-104769200	Weak transcription	Ovary	ovary
38	chr14:104766800-104767000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr14:104766800-104767000	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr14:104766800-104767000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr14:104767000-104767200	Bivalent Enhancer	Placenta	Placenta
42	chr14:104767000-104769200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:104767200-104767600	Weak transcription	Fetal Lung	lung
44	chr14:104767600-104771600	Enhancers	Fetal Lung	lung
45	chr14:104768000-104768400	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr14:104768000-104768800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr14:104768200-104769000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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