Variant report

Variant	nsv901654
Chromosome Location	chr14:38822190-38870456
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	chr14:38862979..38864532-chr14:38872147..38873752,2	MCF-7	breast:

Extended variants
information (count: 920 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144780767	chr14:38824000-38824001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147594936	chr14:38824015-38824016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558204667	chr14:38824048-38824049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149054009	chr14:38824060-38824061	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs1168485	chr14:38824075-38824076	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550547401	chr14:38824126-38824127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184271455	chr14:38824156-38824157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540755478	chr14:38824157-38824158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78953647	chr14:38825632-38825633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544247829	chr14:38825656-38825657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368262367	chr14:38825661-38825662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533457191	chr14:38825667-38825668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs36103419	chr14:38825680-38825681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546745308	chr14:38825713-38825714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566973881	chr14:38825735-38825736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77466734	chr14:38825754-38825755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548781763	chr14:38825760-38825761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568980326	chr14:38825919-38825920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185333922	chr14:38825934-38825935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568766594	chr14:38825941-38825942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571518540	chr14:38825965-38825966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138833332	chr14:38825969-38825970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553972774	chr14:38825993-38825994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557373921	chr14:38826016-38826017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190188304	chr14:38826070-38826071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542838242	chr14:38826081-38826082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74449124	chr14:38826092-38826093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1168488	chr14:38826143-38826144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575735845	chr14:38826169-38826170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544160435	chr14:38826213-38826214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564143521	chr14:38826241-38826242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8012584	chr14:38826243-38826244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540540452	chr14:38826278-38826279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560869238	chr14:38826304-38826305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs8012879	chr14:38826366-38826367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181478370	chr14:38826426-38826427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562402464	chr14:38826436-38826437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35951716	chr14:38826501-38826502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534287702	chr14:38826535-38826536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1952558	chr14:38826562-38826563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78814297	chr14:38826569-38826570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559375520	chr14:38826572-38826573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114776562	chr14:38826577-38826578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556620186	chr14:38826604-38826605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117933639	chr14:38826628-38826629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547695508	chr14:38826645-38826646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144700940	chr14:38826647-38826648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1952559	chr14:38826659-38826660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556335279	chr14:38826697-38826698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534005051	chr14:38826701-38826702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38824000-38824200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:38825600-38828200	Enhancers	HUVEC	blood vessel
3	chr14:38826000-38826800	Enhancers	HSMM	muscle
4	chr14:38826000-38827800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:38826000-38827800	Enhancers	NHDF-Ad	bronchial
6	chr14:38826200-38827600	Enhancers	NHLF	lung
7	chr14:38826400-38826600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:38826400-38827400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:38826400-38827600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:38826600-38827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:38826600-38827400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:38826600-38827600	Enhancers	HSMMtube	muscle
13	chr14:38826600-38827600	Enhancers	NH-A	brain
14	chr14:38826800-38827400	Enhancers	Hela-S3	cervix
15	chr14:38826800-38830200	Weak transcription	HSMM	muscle
16	chr14:38827000-38827600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:38827400-38827800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:38827400-38827800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:38827400-38834400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:38827800-38829600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:38828200-38829800	Weak transcription	HUVEC	blood vessel
22	chr14:38829600-38830800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:38829800-38830600	Enhancers	HUVEC	blood vessel
24	chr14:38830200-38830800	Enhancers	HSMM	muscle
25	chr14:38830600-38833600	Weak transcription	HUVEC	blood vessel
26	chr14:38830800-38835000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:38832400-38832600	Enhancers	Psoas Muscle	Psoas
28	chr14:38832600-38836800	Weak transcription	Psoas Muscle	Psoas
29	chr14:38833600-38835400	Enhancers	HUVEC	blood vessel
30	chr14:38834000-38834400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:38834400-38834600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:38834400-38835600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr14:38834600-38835000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:38834800-38835200	Enhancers	NHDF-Ad	bronchial
35	chr14:38835000-38835200	Enhancers	Gastric	stomach
36	chr14:38835000-38835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:38835000-38835800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:38835000-38835800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:38835400-38836200	Flanking Active TSS	HUVEC	blood vessel
40	chr14:38835600-38835800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:38835600-38835800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:38835600-38836000	Weak transcription	Gastric	stomach
43	chr14:38835800-38836400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:38835800-38837400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:38835800-38838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:38836000-38836200	Enhancers	Gastric	stomach
47	chr14:38836000-38837400	Enhancers	Right Atrium	heart
48	chr14:38836200-38836800	Weak transcription	Gastric	stomach
49	chr14:38836200-38837400	Enhancers	HUVEC	blood vessel
50	chr14:38836400-38837200	Enhancers	Skeletal Muscle Male	skeletal muscle

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