Variant report

Variant	nsv581388
Chromosome Location	chr2:35277976-35329317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:35322123..35325054-chr2:35336591..35340112,3	MCF-7	breast:
2	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:
3	chr2:35324525..35325781-chr2:35339538..35340526,4	MCF-7	breast:
4	chr2:35286578..35288607-chr2:35290647..35293256,2	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180743199	chr2:35292414-35292415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184518129	chr2:35292425-35292426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138181108	chr2:35292484-35292485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563456871	chr2:35292485-35292486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532377061	chr2:35292498-35292499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190205741	chr2:35292512-35292513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34831218	chr2:35292542-35292543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149170667	chr2:35292579-35292580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528198452	chr2:35292647-35292648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3920465	chr2:35292658-35292659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568069834	chr2:35292668-35292669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181870937	chr2:35292673-35292674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550092545	chr2:35292675-35292676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74400169	chr2:35292689-35292690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4393733	chr2:35292696-35292697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148294638	chr2:35292705-35292706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572405071	chr2:35292761-35292762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78020608	chr2:35292762-35292763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374458863	chr2:35292774-35292775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112203579	chr2:35292778-35292779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78931926	chr2:35292820-35292821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186432985	chr2:35292833-35292834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114160662	chr2:35292854-35292855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563621710	chr2:35292865-35292866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190449175	chr2:35292894-35292895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146393302	chr2:35292895-35292896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76658349	chr2:35292921-35292922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116363954	chr2:35292935-35292936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550430233	chr2:35292936-35292937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181617150	chr2:35292950-35292951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561508726	chr2:35292951-35292952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571790892	chr2:35292965-35292966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142914288	chr2:35292985-35292986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2204879	chr2:35293007-35293008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544159757	chr2:35293093-35293094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538802931	chr2:35293116-35293117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552327001	chr2:35293121-35293122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566281339	chr2:35293138-35293139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534795679	chr2:35293139-35293140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs118043411	chr2:35293160-35293161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117298514	chr2:35305054-35305055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550964691	chr2:35305094-35305095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367880491	chr2:35305101-35305102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10202198	chr2:35305102-35305103	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533081599	chr2:35305103-35305104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10178895	chr2:35305111-35305112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566363966	chr2:35305124-35305125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114105498	chr2:35305134-35305135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13397641	chr2:35305135-35305136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568941887	chr2:35305188-35305189	Enhancers	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
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35292400-35293200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:35305000-35307600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:35305200-35305600	Enhancers	NHDF-Ad	bronchial
4	chr2:35305200-35305800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:35305200-35306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:35305400-35305800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:35305400-35306000	Active TSS	A549	lung
8	chr2:35305600-35306200	Enhancers	NH-A	brain
9	chr2:35305800-35306200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:35305800-35306400	Enhancers	Fetal Lung	lung
11	chr2:35306000-35306200	Flanking Active TSS	A549	lung
12	chr2:35306000-35306400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35306200-35307200	Weak transcription	A549	lung
14	chr2:35306200-35307400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:35306600-35307000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:35307200-35307400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:35307200-35307600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:35307200-35307600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:35307200-35307600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:35307200-35307600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:35307200-35307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:35307200-35307600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:35307200-35307800	Enhancers	A549	lung
24	chr2:35307400-35307800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:35307800-35309800	Weak transcription	A549	lung
26	chr2:35309800-35310200	Enhancers	A549	lung
27	chr2:35313400-35314000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:35314000-35314200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:35317200-35318000	Enhancers	A549	lung
30	chr2:35317200-35318200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:35317800-35318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:35317800-35318400	Enhancers	HUES48 Cell Line	embryonic stem cell

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