Variant report

Variant	nsv873838
Chromosome Location	chr2:35309975-35364087
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:35359597..35360193-chr6:115017299..115018148,2	MCF-7	breast:
2	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
3	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
4	chr2:35342917..35344665-chr2:35344772..35347578,2	MCF-7	breast:
5	chr2:35336496..35338395-chr2:35339571..35342545,2	MCF-7	breast:
6	chr2:35342917..35344665-chr2:35344772..35347578,2	MCF-7	breast:
7	chr2:35336496..35338395-chr2:35339571..35342545,2	MCF-7	breast:
8	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
9	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:
10	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:

No data

Extended variants
information (count: 241 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2371504	chr2:35309975-35309976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191060506	chr2:35309986-35309987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2371503	chr2:35310026-35310027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182873492	chr2:35310041-35310042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147149828	chr2:35310079-35310080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149465880	chr2:35310135-35310136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72780664	chr2:35310164-35310165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75175141	chr2:35310169-35310170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57884274	chr2:35310180-35310181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2178677	chr2:35310188-35310189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547597606	chr2:35310195-35310196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569623766	chr2:35313423-35313424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376444309	chr2:35313425-35313426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537667515	chr2:35313439-35313440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576304525	chr2:35313443-35313444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545339042	chr2:35313454-35313455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185465221	chr2:35313530-35313531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189134589	chr2:35313569-35313570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76233935	chr2:35313577-35313578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541617715	chr2:35313600-35313601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561199971	chr2:35313659-35313660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530235234	chr2:35313680-35313681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550185710	chr2:35313710-35313711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185310641	chr2:35313711-35313712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577470290	chr2:35313715-35313716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78151272	chr2:35313719-35313720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79423744	chr2:35313751-35313752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552546839	chr2:35313755-35313756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565976241	chr2:35313781-35313782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534489460	chr2:35313793-35313794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548379694	chr2:35313800-35313801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568046599	chr2:35313804-35313805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372276715	chr2:35313861-35313862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76957423	chr2:35313862-35313863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145595254	chr2:35313872-35313873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138022673	chr2:35313928-35313929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539054257	chr2:35313957-35313958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558940781	chr2:35313982-35313983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111767044	chr2:35314032-35314033	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541234316	chr2:35314033-35314034	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369490478	chr2:35314068-35314069	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs35871714	chr2:35314073-35314074	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs77257028	chr2:35314106-35314107	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574965296	chr2:35314115-35314116	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs72869506	chr2:35314126-35314127	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563664236	chr2:35314129-35314130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76254080	chr2:35314139-35314140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs1922362	chr2:35314140-35314141	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188482362	chr2:35314177-35314178	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528419642	chr2:35314200-35314201	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35309800-35310200	Enhancers	A549	lung
2	chr2:35313400-35314000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:35314000-35314200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:35317200-35318000	Enhancers	A549	lung
5	chr2:35317200-35318200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:35317800-35318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:35317800-35318400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:35338000-35338600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35340000-35341600	Enhancers	Esophagus	oesophagus
10	chr2:35350200-35350600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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