Variant report

Variant	nsv581418
Chromosome Location	chr2:35955580-35991361
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	chr2:35949877..35953265-chr2:35954228..35956588,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234587	chromatin interactions

Extended variants
information (count: 930 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:930 , 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	rs11124474	chr2:35955580-35955581	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540589113	chr2:35955632-35955633	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184078008	chr2:35955649-35955650	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551596117	chr2:35955658-35955659	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551081253	chr2:35955667-35955668	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370280365	chr2:35955669-35955670	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569269233	chr2:35955680-35955681	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187116055	chr2:35955686-35955687	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139501480	chr2:35955693-35955694	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543686230	chr2:35955701-35955702	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566782972	chr2:35955804-35955805	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534264567	chr2:35955805-35955806	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374258016	chr2:35955819-35955820	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546188761	chr2:35955834-35955835	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191225225	chr2:35955838-35955839	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565356370	chr2:35955839-35955840	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114798705	chr2:35955842-35955843	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184645545	chr2:35955846-35955847	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556981746	chr2:35955848-35955849	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575263370	chr2:35955867-35955868	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536402193	chr2:35955873-35955874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1401217	chr2:35955874-35955875	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs576181318	chr2:35955890-35955891	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs60728887	chr2:35955891-35955892	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541978806	chr2:35955895-35955896	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs397809878	chr2:35955903-35955904	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573165041	chr2:35956112-35956113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540580470	chr2:35956118-35956119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565110870	chr2:35956129-35956130	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577201251	chr2:35956163-35956164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138744421	chr2:35956172-35956173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190375274	chr2:35956182-35956183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562955009	chr2:35956203-35956204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530143657	chr2:35956205-35956206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193256286	chr2:35956212-35956213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572596615	chr2:35956232-35956233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112804548	chr2:35956247-35956248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185004631	chr2:35956248-35956249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527960449	chr2:35956258-35956259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189130383	chr2:35956307-35956308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527537074	chr2:35956322-35956323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538598611	chr2:35956344-35956345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs1401216	chr2:35956363-35956364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181156115	chr2:35956364-35956365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145439383	chr2:35956396-35956397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79945963	chr2:35956411-35956412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185610550	chr2:35956437-35956438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148403853	chr2:35956444-35956445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573102712	chr2:35956472-35956473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71394597	chr2:35956482-35956483	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35955000-35955800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:35955000-35955800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:35955200-35955800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:35955200-35955800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:35955400-35955800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:35955600-35956000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:35959400-35960000	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:35962600-35963800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:35963600-35963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:35963800-35971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:35963800-35972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:35971600-35972000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:35972000-35972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:35977000-35977200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:35977200-35980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:35980000-35984600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:35984600-35985000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:35985000-35986600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:35986600-35987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:35987000-35990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:35990600-35991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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