Variant report

Variant	nsv581390
Chromosome Location	chr2:35309259-35347774
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Extended variants
information (count: 247 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:247 , 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	rs4670434	chr2:35309259-35309260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76856976	chr2:35309279-35309280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72868295	chr2:35309301-35309302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4670435	chr2:35309328-35309329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186315971	chr2:35309355-35309356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11675634	chr2:35309364-35309365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576190001	chr2:35309405-35309406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552531842	chr2:35309450-35309451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572553871	chr2:35309497-35309498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541704303	chr2:35309519-35309520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10192673	chr2:35309520-35309521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112361906	chr2:35309526-35309527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543626921	chr2:35309529-35309530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563906643	chr2:35309535-35309536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532628608	chr2:35309536-35309537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546366290	chr2:35309552-35309553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74262277	chr2:35309598-35309599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528433121	chr2:35309601-35309602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548563578	chr2:35309610-35309611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561805411	chr2:35309669-35309670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530847687	chr2:35309675-35309676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550347889	chr2:35309684-35309685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570342008	chr2:35309714-35309715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150288114	chr2:35309727-35309728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546332895	chr2:35309739-35309740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553806919	chr2:35309741-35309742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576531102	chr2:35309779-35309780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2178676	chr2:35309795-35309796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535060857	chr2:35309849-35309850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137892813	chr2:35309928-35309929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77152897	chr2:35309934-35309935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537776217	chr2:35309955-35309956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557585035	chr2:35309960-35309961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2371504	chr2:35309975-35309976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191060506	chr2:35309986-35309987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2371503	chr2:35310026-35310027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182873492	chr2:35310041-35310042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147149828	chr2:35310079-35310080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149465880	chr2:35310135-35310136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72780664	chr2:35310164-35310165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75175141	chr2:35310169-35310170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57884274	chr2:35310180-35310181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs2178677	chr2:35310188-35310189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547597606	chr2:35310195-35310196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569623766	chr2:35313423-35313424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376444309	chr2:35313425-35313426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537667515	chr2:35313439-35313440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576304525	chr2:35313443-35313444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545339042	chr2:35313454-35313455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185465221	chr2:35313530-35313531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35307800-35309800	Weak transcription	A549	lung
2	chr2:35309800-35310200	Enhancers	A549	lung
3	chr2:35313400-35314000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:35314000-35314200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:35317200-35318000	Enhancers	A549	lung
6	chr2:35317200-35318200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:35317800-35318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:35317800-35318400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:35338000-35338600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35340000-35341600	Enhancers	Esophagus	oesophagus

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