Variant report

Variant	nsv962521
Chromosome Location	chr2:34243586-34254545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
2	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
3	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129484	chromatin interactions
ENSG00000259001	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190933772	chr2:34243592-34243593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566166562	chr2:34243601-34243602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534789989	chr2:34243626-34243627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573734366	chr2:34243672-34243673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554584452	chr2:34243675-34243676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397984275	chr2:34243679-34243680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574472069	chr2:34243720-34243721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531937276	chr2:34243735-34243736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543384905	chr2:34243766-34243767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73926833	chr2:34243767-34243768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577426419	chr2:34243778-34243779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546383644	chr2:34243854-34243855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550331320	chr2:34243928-34243929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144805397	chr2:34243963-34243964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145564289	chr2:34244002-34244003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541933710	chr2:34244030-34244031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561693018	chr2:34244034-34244035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530539592	chr2:34244078-34244079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543142897	chr2:34244083-34244084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550558245	chr2:34244091-34244092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4671023	chr2:34244098-34244099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs148914161	chr2:34244157-34244158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546818151	chr2:34244158-34244159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180753438	chr2:34244185-34244186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76784336	chr2:34244241-34244242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576654908	chr2:34244257-34244258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547864500	chr2:34244280-34244281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185752980	chr2:34244281-34244282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568181044	chr2:34244299-34244300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537058731	chr2:34244302-34244303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12996009	chr2:34244337-34244338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190076573	chr2:34244341-34244342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183202209	chr2:34244342-34244343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546172875	chr2:34244365-34244366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553568316	chr2:34244367-34244368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202236857	chr2:34244378-34244379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573456251	chr2:34244463-34244464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369351907	chr2:34244475-34244476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187494964	chr2:34244482-34244483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143609481	chr2:34244494-34244495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530578815	chr2:34244515-34244516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544197571	chr2:34244518-34244519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563921710	chr2:34244524-34244525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553182938	chr2:34244528-34244529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569184089	chr2:34244559-34244560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148048926	chr2:34244589-34244590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192084435	chr2:34244590-34244591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566731719	chr2:34244607-34244608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183980705	chr2:34244634-34244635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541763738	chr2:34244635-34244636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34243000-34248800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:34248800-34249200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34249400-34250200	Weak transcription	Left Ventricle	heart
4	chr2:34249600-34250600	Enhancers	Stomach Smooth Muscle	stomach
5	chr2:34249800-34250600	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr2:34249800-34250600	Enhancers	Fetal Stomach	stomach
7	chr2:34250200-34250600	Enhancers	Colon Smooth Muscle	Colon
8	chr2:34250400-34251000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:34250400-34251000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:34250600-34255400	Weak transcription	Fetal Stomach	stomach
11	chr2:34250600-34255800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:34250600-34256000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:34250600-34256200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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