Variant report

Variant	nsv1013428
Chromosome Location	chr2:36098961-36132943
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	chr2:36099243..36100067-chr2:36734209..36735134,2	MCF-7	breast:

Extended variants
information (count: 250 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:250 , 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	rs1401775	chr2:36098961-36098962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541119917	chr2:36098963-36098964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111538345	chr2:36098967-36098968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62147179	chr2:36098994-36098995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571637760	chr2:36099064-36099065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72798005	chr2:36099134-36099135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1401776	chr2:36099141-36099142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575910146	chr2:36099154-36099155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116050265	chr2:36099171-36099172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535386064	chr2:36099175-36099176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144568809	chr2:36099176-36099177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573719519	chr2:36099187-36099188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13411285	chr2:36099215-36099216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147878440	chr2:36099223-36099224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141847237	chr2:36099224-36099225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188322786	chr2:36099252-36099253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72798006	chr2:36099257-36099258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184175811	chr2:36099261-36099262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115689462	chr2:36099297-36099298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188691009	chr2:36099299-36099300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145712112	chr2:36099304-36099305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376115524	chr2:36099324-36099325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564213403	chr2:36099334-36099335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552472480	chr2:36099361-36099362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546570264	chr2:36099413-36099414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571737799	chr2:36099449-36099450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62147180	chr2:36099499-36099500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551163265	chr2:36099528-36099529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62147181	chr2:36099543-36099544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536836677	chr2:36099544-36099545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191267020	chr2:36099581-36099582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555334954	chr2:36099596-36099597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573554561	chr2:36099606-36099607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534623114	chr2:36099610-36099611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561713236	chr2:36099663-36099664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183856879	chr2:36099664-36099665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112300600	chr2:36099665-36099666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533559840	chr2:36099686-36099687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563392079	chr2:36099706-36099707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371633579	chr2:36099710-36099711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368095828	chr2:36099720-36099721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190527267	chr2:36099764-36099765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62147182	chr2:36099771-36099772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs151083615	chr2:36099773-36099774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557179585	chr2:36099796-36099797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546605086	chr2:36099829-36099830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565093670	chr2:36099836-36099837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115983868	chr2:36099841-36099842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182028658	chr2:36099863-36099864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569318605	chr2:36099968-36099969	Weak transcription	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36098000-36102800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36102200-36103000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:36102800-36103000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:36116800-36118000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:36116800-36118200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:36117000-36117400	Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr2:36117000-36117600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:36117000-36117600	Active TSS	Liver	Liver
9	chr2:36117200-36117600	Active TSS	Primary T cells fromperipheralblood	blood
10	chr2:36117200-36117600	Active TSS	Duodenum Mucosa	Duodenum
11	chr2:36117200-36117600	Bivalent/Poised TSS	A549	lung
12	chr2:36117600-36117800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:36131600-36132000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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