Variant report

Variant	nsv1007420
Chromosome Location	chr2:57875786-57924300
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	chr2:57923440..57925046-chr2:57926940..57929497,2	K562	blood:

Extended variants
information (count: 1836 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369611304	chr2:57876610-57876611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138145838	chr2:57876732-57876733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555266083	chr2:57876788-57876789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142313474	chr2:57876801-57876802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544433512	chr2:57876803-57876804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13021827	chr2:57876873-57876874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577694024	chr2:57876879-57876880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539934897	chr2:57876908-57876909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529295248	chr2:57876998-57876999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560255559	chr2:57877029-57877030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528918686	chr2:57877039-57877040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542598251	chr2:57877074-57877075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs548176859	chr2:57877091-57877092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs531102440	chr2:57877133-57877134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571751916	chr2:57877136-57877137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs820777	chr2:57877166-57877167	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs75236346	chr2:57877211-57877212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370901103	chr2:57877225-57877226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550721113	chr2:57877252-57877253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533504705	chr2:57877264-57877265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186184675	chr2:57877273-57877274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13000988	chr2:57877282-57877283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535463485	chr2:57877290-57877291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190991650	chr2:57877295-57877296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569178118	chr2:57877301-57877302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576012752	chr2:57877324-57877325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182553453	chr2:57877383-57877384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77223868	chr2:57877419-57877420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10171645	chr2:57877426-57877427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533946708	chr2:57877433-57877434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113346196	chr2:57877494-57877495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553109801	chr2:57877495-57877496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11461961	chr2:57877504-57877505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202001309	chr2:57877505-57877506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542686011	chr2:57877509-57877510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139840774	chr2:57877532-57877533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575922236	chr2:57877533-57877534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141632479	chr2:57877539-57877540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs820775	chr2:57877570-57877571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144515554	chr2:57877589-57877590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546747312	chr2:57877689-57877690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188021871	chr2:57877722-57877723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529341261	chr2:57877737-57877738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190800456	chr2:57877753-57877754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569140455	chr2:57877779-57877780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183168180	chr2:57877789-57877790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551408640	chr2:57877823-57877824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572665189	chr2:57877849-57877850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs820774	chr2:57877865-57877866	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs148555721	chr2:57877878-57877879	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57876600-57877000	Weak transcription	Thymus	Thymus
2	chr2:57877000-57877200	ZNF genes & repeats	Thymus	Thymus
3	chr2:57877200-57882000	Weak transcription	Thymus	Thymus
4	chr2:57877800-57878000	ZNF genes & repeats	Spleen	Spleen
5	chr2:57882000-57882400	ZNF genes & repeats	Thymus	Thymus
6	chr2:57882200-57883000	ZNF genes & repeats	Liver	Liver
7	chr2:57884000-57892600	Weak transcription	Fetal Thymus	thymus
8	chr2:57892600-57899200	Active TSS	Fetal Thymus	thymus
9	chr2:57892800-57895600	Active TSS	Thymus	Thymus
10	chr2:57895600-57899800	Weak transcription	Thymus	Thymus
11	chr2:57899200-57899400	Flanking Active TSS	Fetal Thymus	thymus
12	chr2:57899400-57899600	Active TSS	Fetal Thymus	thymus
13	chr2:57899600-57900000	Flanking Active TSS	Fetal Thymus	thymus
14	chr2:57899800-57900000	Enhancers	Thymus	Thymus
15	chr2:57900000-57900800	Enhancers	Fetal Thymus	thymus
16	chr2:57900000-57901400	Weak transcription	Thymus	Thymus
17	chr2:57900800-57901400	Weak transcription	Fetal Thymus	thymus
18	chr2:57901400-57901800	Active TSS	Thymus	Thymus
19	chr2:57901400-57902000	Active TSS	Fetal Thymus	thymus
20	chr2:57901400-57902200	Enhancers	Primary T cells from cord blood	blood
21	chr2:57901800-57902400	Enhancers	Thymus	Thymus
22	chr2:57902000-57902400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
23	chr2:57902400-57902600	Genic enhancers	Fetal Thymus	thymus
24	chr2:57902400-57908800	Weak transcription	Thymus	Thymus
25	chr2:57902600-57904200	Weak transcription	Fetal Thymus	thymus
26	chr2:57904200-57904600	Strong transcription	Fetal Thymus	thymus
27	chr2:57904600-57908600	Weak transcription	Fetal Thymus	thymus
28	chr2:57908600-57909600	Strong transcription	Fetal Thymus	thymus
29	chr2:57908800-57909000	Enhancers	Thymus	Thymus
30	chr2:57909000-57912000	Weak transcription	Thymus	Thymus
31	chr2:57909600-57910600	Genic enhancers	Fetal Thymus	thymus
32	chr2:57910000-57912600	Weak transcription	Pancreas	Pancrea
33	chr2:57910600-57912000	Strong transcription	Fetal Thymus	thymus
34	chr2:57911400-57913000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:57912000-57913600	ZNF genes & repeats	Thymus	Thymus
36	chr2:57912000-57913800	Genic enhancers	Fetal Thymus	thymus
37	chr2:57912600-57913000	ZNF genes & repeats	Pancreas	Pancrea
38	chr2:57913600-57923600	Weak transcription	Thymus	Thymus
39	chr2:57913800-57914800	Weak transcription	Fetal Thymus	thymus
40	chr2:57914800-57915200	ZNF genes & repeats	Fetal Thymus	thymus
41	chr2:57915200-57923000	Weak transcription	Fetal Thymus	thymus
42	chr2:57917600-57921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:57919000-57919400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:57919400-57923200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:57920000-57920800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:57920200-57920600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:57920200-57921400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:57920400-57920800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:57920600-57921600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:57921000-57921400	Enhancers	HUES48 Cell Line	embryonic stem cell

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