Variant report

Variant	nsv9580
Chromosome Location	chr2:36283694-36285579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147814227	chr2:36284605-36284606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536233106	chr2:36284617-36284618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370483415	chr2:36284675-36284676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567817719	chr2:36284680-36284681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186376889	chr2:36284683-36284684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576108505	chr2:36284716-36284717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190974750	chr2:36284724-36284725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10169201	chr2:36284734-36284735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112240329	chr2:36284802-36284803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538577664	chr2:36284812-36284813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113169366	chr2:36284849-36284850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113497181	chr2:36284869-36284870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114726719	chr2:36284872-36284873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560903050	chr2:36284913-36284914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572859851	chr2:36284938-36284939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs931401	chr2:36284939-36284940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs78649950	chr2:36284972-36284973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6740927	chr2:36284976-36284977	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550499537	chr2:36284984-36284985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562423364	chr2:36284991-36284992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373784426	chr2:36284999-36285000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534720220	chr2:36285030-36285031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529974257	chr2:36285049-36285050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141340080	chr2:36285053-36285054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368837548	chr2:36285064-36285065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35072547	chr2:36285128-36285129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544569301	chr2:36285129-36285130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111633935	chr2:36285130-36285131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397871811	chr2:36285138-36285139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17018101	chr2:36285217-36285218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs72865755	chr2:36285253-36285254	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534078440	chr2:36285286-36285287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182762799	chr2:36285294-36285295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550385173	chr2:36285302-36285303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571090833	chr2:36285342-36285343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113980506	chr2:36285361-36285362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191410807	chr2:36285382-36285383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149593130	chr2:36285404-36285405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183194204	chr2:36285414-36285415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187813298	chr2:36285480-36285481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192439043	chr2:36285553-36285554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs305193	chr2:36285554-36285555	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs10495862	chr2:36285558-36285559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36284600-36284800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36284600-36285800	Enhancers	Primary T cells from cord blood	blood
3	chr2:36284600-36286400	Enhancers	HUVEC	blood vessel
4	chr2:36284800-36286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:36284800-36286200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:36284800-36287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:36284800-36287800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:36284800-36287800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:36285000-36285400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:36285200-36285400	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:36285200-36285400	Enhancers	Fetal Intestine Small	intestine
12	chr2:36285200-36285600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:36285200-36286200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:36285200-36287800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:36285200-36288000	Enhancers	Fetal Intestine Large	intestine
16	chr2:36285400-36286200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:36285400-36286200	Weak transcription	Fetal Intestine Small	intestine

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