Variant report

Variant	nsv1013212
Chromosome Location	chr2:57687436-57760750
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:56357220..56358069-chr2:57743520..57744164,2	MCF-7	breast:
2	chr2:57719207..57721496-chr2:57722799..57725075,2	MCF-7	breast:
3	chr2:57696000..57698302-chr2:57699957..57702610,2	K562	blood:
4	chr2:57686552..57689405-chr2:57735534..57737911,2	K562	blood:
5	chr2:57726830..57729165-chr2:57729921..57733736,3	K562	blood:
6	chr2:57696000..57698302-chr2:57699957..57702610,2	K562	blood:
7	chr2:57726879..57729165-chr2:57731131..57733736,2	K562	blood:
8	chr2:57695038..57697832-chr2:57697917..57700071,2	MCF-7	breast:
9	chr2:57603852..57604740-chr2:57724321..57725273,3	MCF-7	breast:
10	chr2:57748644..57750664-chr2:57753276..57755750,2	K562	blood:
11	chr2:57602104..57602641-chr2:57724502..57725135,2	MCF-7	breast:
12	chr2:57719207..57721496-chr2:57722799..57725075,2	MCF-7	breast:
13	chr2:57686552..57689405-chr2:57735534..57737911,2	K562	blood:
14	chr2:57726830..57729165-chr2:57729921..57733736,3	K562	blood:
15	chr2:57748644..57750664-chr2:57753276..57755750,2	K562	blood:
16	chr2:56410841..56411352-chr2:57724378..57725263,2	K562	blood:
17	chr2:57705830..57708555-chr2:57710659..57712382,2	MCF-7	breast:
18	chr2:57724780..57726357-chr2:57726897..57728575,2	MCF-7	breast:
19	chr2:57726879..57729165-chr2:57731131..57733736,2	K562	blood:
20	chr2:57724780..57726357-chr2:57726897..57728575,2	MCF-7	breast:
21	chr2:56409714..56412670-chr2:57741960..57744837,3	MCF-7	breast:
22	chr2:57603431..57604465-chr2:57724481..57725285,5	MCF-7	breast:
23	chr2:57695038..57697832-chr2:57697917..57700071,2	MCF-7	breast:
24	chr2:57680802..57681722-chr2:57724395..57725159,3	MCF-7	breast:
25	chr2:57705830..57708555-chr2:57710659..57712382,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000055813	chromatin interactions
ENSG00000233251	chromatin interactions

Extended variants
information (count: 877 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550503368	chr2:57687465-57687466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199580778	chr2:57687486-57687487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551264839	chr2:57687514-57687515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532377860	chr2:57687519-57687520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186061325	chr2:57687525-57687526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571312350	chr2:57687533-57687534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552903274	chr2:57687600-57687601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550438828	chr2:57687607-57687608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371055655	chr2:57687610-57687611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370110986	chr2:57687616-57687617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189262381	chr2:57687619-57687620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571036588	chr2:57687675-57687676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566305576	chr2:57687680-57687681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75352093	chr2:57687766-57687767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548408981	chr2:57687775-57687776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2176585	chr2:57687930-57687931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537056481	chr2:57687931-57687932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557284682	chr2:57687942-57687943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2176586	chr2:57687950-57687951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547304571	chr2:57687980-57687981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539374694	chr2:57687999-57688000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181856978	chr2:57688097-57688098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200988869	chr2:57688101-57688102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12467335	chr2:57688102-57688103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551370945	chr2:57688103-57688104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72937394	chr2:57688248-57688249	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561631010	chr2:57688251-57688252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148631221	chr2:57688272-57688273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142123416	chr2:57688277-57688278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13394838	chr2:57688326-57688327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs151289263	chr2:57688337-57688338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546554562	chr2:57688492-57688493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17048832	chr2:57688531-57688532	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs58125502	chr2:57688550-57688551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547262352	chr2:57688558-57688559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140551590	chr2:57688601-57688602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76436320	chr2:57688636-57688637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550795610	chr2:57688645-57688646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570543354	chr2:57688662-57688663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539411634	chr2:57688673-57688674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10200133	chr2:57688759-57688760	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147742180	chr2:57688770-57688771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535299868	chr2:57688777-57688778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555577095	chr2:57688781-57688782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376968381	chr2:57688799-57688800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192383335	chr2:57688820-57688821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12467513	chr2:57688847-57688848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182357732	chr2:57688854-57688855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539300904	chr2:57688884-57688885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557873258	chr2:57688885-57688886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57687200-57692400	Weak transcription	Right Atrium	heart
2	chr2:57688200-57689800	Enhancers	Fetal Brain Male	brain
3	chr2:57688600-57688800	Enhancers	Fetal Brain Female	brain
4	chr2:57689400-57689600	Enhancers	Fetal Brain Female	brain
5	chr2:57691200-57691400	Enhancers	Fetal Heart	heart
6	chr2:57691600-57692600	Weak transcription	Fetal Heart	heart
7	chr2:57692600-57694200	Enhancers	Fetal Heart	heart
8	chr2:57702600-57703000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:57702600-57703200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:57713800-57715400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:57714800-57715600	Enhancers	Fetal Heart	heart
12	chr2:57715400-57715600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:57715600-57716400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:57716400-57716800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:57716800-57717600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:57717200-57718400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:57720400-57721200	Enhancers	Fetal Heart	heart
18	chr2:57724200-57724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:57724400-57724800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:57724800-57725200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:57734800-57736200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:57735200-57735800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:57735200-57736000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:57743600-57744000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:57743600-57744000	Active TSS	Brain Anterior Caudate	brain
26	chr2:57743600-57744400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:57743600-57744400	Active TSS	Brain Hippocampus Middle	brain
28	chr2:57749800-57751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:57755200-57755800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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