Variant report

Variant	nsv527513
Chromosome Location	chr2:51673576-51693598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:51664217-51674289..2:51983874-51990011	GM12878	blood:
2	2:51664217-51674289..2:52034460-52043624	GM12878	blood:
3	2:51664217-51674289..2:52112664-52117037	K562	blood:
4	2:51664217-51674289..2:52100874-52104046	H1-hESC	embryonic stem cell:	embryo
5	chr2:51679046..51681957-chr7:115448704..115450725,2	MCF-7	breast:
6	2:51664217-51674289..2:51733860-51734854	H1-hESC	embryonic stem cell:	embryo
7	2:51664217-51674289..2:51974300-51979334	H1-hESC	embryonic stem cell:	embryo
8	2:51664217-51674289..2:51674430-51675236	H1-hESC	embryonic stem cell:	embryo
9	2:51664217-51674289..2:51942985-51943865	H1-hESC	embryonic stem cell:	embryo
10	2:51675236-51679533..2:52132828-52140118	GM12878	blood:
11	2:51664217-51674289..2:52132828-52140118	H1-hESC	embryonic stem cell:	embryo
12	2:51664217-51674289..2:52006946-52008886	H1-hESC	embryonic stem cell:	embryo
13	2:51664217-51674289..2:51745267-51754233	H1-hESC	embryonic stem cell:	embryo
14	chr2:51687766..51690172-chr2:51690556..51692206,2	K562	blood:
15	2:51664217-51674289..2:52043909-52049825	H1-hESC	embryonic stem cell:	embryo
16	chr2:51677393..51680281-chr2:51681888..51683909,2	MCF-7	breast:
17	2:51664217-51674289..2:51764739-51769547	H1-hESC	embryonic stem cell:	embryo
18	chr2:51677393..51680281-chr2:51681888..51683909,2	MCF-7	breast:
19	2:51664217-51674289..2:52055539-52058793	H1-hESC	embryonic stem cell:	embryo
20	2:51664217-51674289..2:51887872-51889464	H1-hESC	embryonic stem cell:	embryo
21	2:51664217-51674289..2:51674430-51675236	H1-hESC	embryonic stem cell:	embryo
22	2:51664217-51674289..2:51908308-51914662	H1-hESC	embryonic stem cell:	embryo
23	2:51681598-51686731..2:51983874-51990011	GM12878	blood:
24	chr2:51687766..51690172-chr2:51690556..51692206,2	K562	blood:

No data

Extended variants
information (count: 302 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs11888857	chr2:51673576-51673577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555925736	chr2:51673606-51673607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567813089	chr2:51673620-51673621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35778024	chr2:51673626-51673627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77901922	chr2:51673627-51673628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538548861	chr2:51673629-51673630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202022754	chr2:51673639-51673640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201193751	chr2:51673640-51673641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13011380	chr2:51673643-51673644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs578090938	chr2:51673648-51673649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545369338	chr2:51673673-51673674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369017593	chr2:51673676-51673677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13011925	chr2:51673712-51673713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572497553	chr2:51673726-51673727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542706121	chr2:51673733-51673734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560754600	chr2:51673746-51673747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531366006	chr2:51673751-51673752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543336264	chr2:51673766-51673767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186916175	chr2:51673828-51673829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376262234	chr2:51673842-51673843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189751750	chr2:51673853-51673854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547362978	chr2:51673859-51673860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13012168	chr2:51673864-51673865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373222431	chr2:51673867-51673868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146411570	chr2:51673879-51673880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139868749	chr2:51673880-51673881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28958869	chr2:51673917-51673918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146739232	chr2:51673962-51673963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531742020	chr2:51673963-51673964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13012231	chr2:51674029-51674030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs36031764	chr2:51674034-51674035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375698389	chr2:51674051-51674052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565273331	chr2:51674078-51674079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538703064	chr2:51674091-51674092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28957371	chr2:51674095-51674096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs13006383	chr2:51674147-51674148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs536764141	chr2:51674178-51674179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547841427	chr2:51674273-51674274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140283247	chr2:51674314-51674315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374547392	chr2:51674322-51674323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543199624	chr2:51674369-51674370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541625744	chr2:51674372-51674373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564878467	chr2:51674422-51674423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183444010	chr2:51674423-51674424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13030070	chr2:51674451-51674452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575101922	chr2:51674469-51674470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530191072	chr2:51674509-51674510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559309617	chr2:51674542-51674543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188025570	chr2:51674555-51674556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192824760	chr2:51674592-51674593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51672400-51677800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:51675200-51676200	Enhancers	HUVEC	blood vessel
3	chr2:51678000-51678400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:51678000-51678600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:51681400-51681800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:51681600-51682200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:51692600-51693000	Enhancers	Fetal Stomach	stomach

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