Variant report

Variant	nsv581461
Chromosome Location	chr2:36224052-36248316
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	chr2:36243496..36245168-chr2:36248339..36251225,2	K562	blood:

Extended variants
information (count: 296 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs833787	chr2:36224052-36224053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558998893	chr2:36224053-36224054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577273672	chr2:36224065-36224066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549952772	chr2:36224085-36224086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565269298	chr2:36224098-36224099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189364622	chr2:36224099-36224100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532426554	chr2:36224118-36224119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551648241	chr2:36224165-36224166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142270803	chr2:36224179-36224180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560054377	chr2:36224181-36224182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527441886	chr2:36224193-36224194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193116409	chr2:36224194-36224195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571425723	chr2:36224255-36224256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560310089	chr2:36224263-36224264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113797162	chr2:36224265-36224266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151255779	chr2:36224351-36224352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17402919	chr2:36224427-36224428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79460534	chr2:36224451-36224452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367833170	chr2:36224472-36224473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375734872	chr2:36224492-36224493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72864064	chr2:36224530-36224531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568976484	chr2:36224536-36224537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535963839	chr2:36224549-36224550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554754946	chr2:36224555-36224556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537960498	chr2:36224567-36224568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185131879	chr2:36224615-36224616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534093875	chr2:36224672-36224673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558861066	chr2:36224682-36224683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190009606	chr2:36224700-36224701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577187020	chr2:36224718-36224719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544625871	chr2:36224799-36224800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74467137	chr2:36224844-36224845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574922016	chr2:36224854-36224855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12712473	chr2:36224882-36224883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560322278	chr2:36224949-36224950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376251368	chr2:36224955-36224956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572278033	chr2:36224959-36224960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139403050	chr2:36225038-36225039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79473611	chr2:36225068-36225069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150052877	chr2:36225075-36225076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561545840	chr2:36225102-36225103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531905283	chr2:36225105-36225106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147751198	chr2:36225168-36225169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34727844	chr2:36225177-36225178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562300995	chr2:36225197-36225198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369238109	chr2:36225198-36225199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533801605	chr2:36225240-36225241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548270327	chr2:36225243-36225244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566692598	chr2:36225253-36225254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536812453	chr2:36225343-36225344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36222200-36225400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36225400-36225800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:36225400-36226000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36225600-36226000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:36226400-36226800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:36229600-36230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:36230000-36230400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:36230000-36230600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:36230000-36230800	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:36230200-36230600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:36230200-36230600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:36236600-36237200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:36237000-36237200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:36237000-36237200	Enhancers	Psoas Muscle	Psoas
15	chr2:36237400-36238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:36237400-36238400	Weak transcription	Psoas Muscle	Psoas
17	chr2:36238200-36238600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:36238200-36239400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:36238400-36239000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:36238400-36239000	Enhancers	Psoas Muscle	Psoas
21	chr2:36238600-36239400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:36239000-36239200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:36239400-36239800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:36239400-36240200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:36239400-36240800	Enhancers	Adipose Nuclei	Adipose
26	chr2:36239800-36240600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:36240000-36241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:36240200-36240800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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