Variant report

Variant	nsv874180
Chromosome Location	chr2:56822558-56957466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:65596956..65597465-chr2:56867065..56867565,2	NB4	blood:
2	chr2:56919330..56921444-chr2:57050867..57052484,2	MCF-7	breast:
3	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:
4	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
5	chr2:56880116..56881952-chr2:56892431..56894900,2	MCF-7	breast:
6	chr2:56940349..56941971-chr2:56943071..56945568,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200156	chromatin interactions

Extended variants
information (count: 2629 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2629 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2870066	chr2:56822558-56822559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76932627	chr2:56822574-56822575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538358699	chr2:56822577-56822578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368197250	chr2:56822607-56822608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116165378	chr2:56822632-56822633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60189182	chr2:56822643-56822644	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540492678	chr2:56822655-56822656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55786755	chr2:56822660-56822661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540551694	chr2:56822675-56822676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573552082	chr2:56822697-56822698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78868421	chr2:56822731-56822732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376650081	chr2:56822799-56822800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562426433	chr2:56822800-56822801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368586446	chr2:56822801-56822802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578002582	chr2:56822803-56822804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10200267	chr2:56822808-56822809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563454453	chr2:56822826-56822827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557503849	chr2:56822827-56822828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181791373	chr2:56822851-56822852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564301554	chr2:56822868-56822869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10200349	chr2:56822872-56822873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2904308	chr2:56822882-56822883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567184285	chr2:56822887-56822888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528881637	chr2:56822928-56822929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72805189	chr2:56822947-56822948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549325636	chr2:56822962-56822963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144257778	chr2:56822993-56822994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538295752	chr2:56823002-56823003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532286303	chr2:56823020-56823021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571456673	chr2:56823031-56823032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184802800	chr2:56823051-56823052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553760788	chr2:56823074-56823075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573909911	chr2:56823119-56823120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542570841	chr2:56823176-56823177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543571701	chr2:56833418-56833419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556902459	chr2:56833426-56833427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145277320	chr2:56833447-56833448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114454542	chr2:56833452-56833453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149168850	chr2:56833456-56833457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146467750	chr2:56833459-56833460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541923624	chr2:56833531-56833532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561855511	chr2:56833544-56833545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530535050	chr2:56833545-56833546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550320957	chr2:56833547-56833548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570164869	chr2:56833578-56833579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11688435	chr2:56833580-56833581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183690404	chr2:56833581-56833582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370584731	chr2:56833583-56833584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555948033	chr2:56835604-56835605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556021606	chr2:56835605-56835606	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56822200-56823200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:56833400-56833600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:56835600-56835800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:56836200-56837400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:56837200-56837600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:56837400-56838200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:56837600-56838000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:56837600-56838400	Enhancers	HSMM	muscle
9	chr2:56838200-56840800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:56838400-56840600	Weak transcription	HSMM	muscle
11	chr2:56840600-56841600	Enhancers	HSMM	muscle
12	chr2:56840800-56841600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:56841400-56841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:56841600-56842600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:56842600-56843000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:56842800-56843600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:56869400-56869600	Active TSS	Fetal Heart	heart
18	chr2:56869400-56870000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:56869400-56870200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:56869600-56870000	Flanking Active TSS	Fetal Heart	heart
21	chr2:56870000-56870200	Enhancers	Fetal Heart	heart
22	chr2:56879000-56879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:56879200-56879600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:56879400-56879600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:56884000-56884400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:56892000-56892800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:56895400-56896000	Enhancers	Adipose Nuclei	Adipose
28	chr2:56896000-56898800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:56898800-56900200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr2:56899400-56899800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr2:56899400-56900000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:56899400-56900000	ZNF genes & repeats	Gastric	stomach
33	chr2:56899400-56900600	ZNF genes & repeats	Pancreas	Pancrea
34	chr2:56899600-56900600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:56906800-56909800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:56907000-56908000	Enhancers	HUVEC	blood vessel
37	chr2:56907000-56909800	Enhancers	HSMM	muscle
38	chr2:56907200-56909200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:56907200-56909400	Enhancers	NHEK	skin
40	chr2:56907200-56909600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:56907200-56909800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:56907400-56907800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr2:56907400-56907800	Enhancers	HSMMtube	muscle
44	chr2:56907400-56909600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:56907600-56908000	Enhancers	Osteobl	bone
46	chr2:56907600-56909200	Enhancers	NHDF-Ad	bronchial
47	chr2:56907800-56909200	Weak transcription	HSMMtube	muscle
48	chr2:56907800-56909400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:56907800-56914200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:56908000-56908400	Flanking Active TSS	HUVEC	blood vessel

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