Variant report

Variant	nsv581314
Chromosome Location	chr2:33765223-33766555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193058138	chr2:33765257-33765258	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147090727	chr2:33765266-33765267	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115892508	chr2:33765276-33765277	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557401874	chr2:33765298-33765299	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577567506	chr2:33765300-33765301	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546517308	chr2:33765306-33765307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560130086	chr2:33765337-33765338	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528672821	chr2:33765353-33765354	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542089531	chr2:33765356-33765357	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561089905	chr2:33765364-33765365	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183332863	chr2:33765404-33765405	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187904926	chr2:33765409-33765410	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570115292	chr2:33765421-33765422	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61361050	chr2:33765506-33765507	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192417942	chr2:33765530-33765531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370351018	chr2:33765532-33765533	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566687582	chr2:33765534-33765535	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147708112	chr2:33765588-33765589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113969440	chr2:33765612-33765613	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368439925	chr2:33765622-33765623	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61134425	chr2:33765623-33765624	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377215232	chr2:33765624-33765625	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369389865	chr2:33765627-33765628	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543242269	chr2:33765629-33765630	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375465101	chr2:33765645-33765646	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62149025	chr2:33765681-33765682	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143666958	chr2:33765682-33765683	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72384480	chr2:33765683-33765684	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74271032	chr2:33765704-33765705	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397953347	chr2:33765707-33765708	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374205180	chr2:33765708-33765709	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555292576	chr2:33765763-33765764	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568506764	chr2:33765830-33765831	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537153843	chr2:33765861-33765862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557538729	chr2:33765864-33765865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370935332	chr2:33765929-33765930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114802058	chr2:33765935-33765936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34398333	chr2:33765948-33765949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17013272	chr2:33765955-33765956	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553684583	chr2:33765963-33765964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143389913	chr2:33766024-33766025	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532700515	chr2:33766063-33766064	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148203352	chr2:33766128-33766129	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562150824	chr2:33766169-33766170	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183801116	chr2:33766218-33766219	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543898372	chr2:33766242-33766243	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563876818	chr2:33766255-33766256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141161059	chr2:33766294-33766295	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56407591	chr2:33766458-33766459	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	18458336	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33738600-33782800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:33738800-33777200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:33740800-33790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:33747800-33780200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:33748000-33774400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:33748000-33790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:33748200-33780200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:33755000-33779800	Weak transcription	Small Intestine	intestine
10	chr2:33755200-33767800	Weak transcription	Liver	Liver
11	chr2:33755400-33779800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:33757000-33780000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:33757200-33765400	Weak transcription	Right Atrium	heart
14	chr2:33757200-33809800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:33759000-33765800	Strong transcription	GM12878-XiMat	blood
16	chr2:33759000-33766600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:33760800-33782200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:33760800-33783600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:33761000-33765400	Weak transcription	NHDF-Ad	bronchial
20	chr2:33761000-33789000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:33761200-33768200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:33761200-33771000	Weak transcription	Right Ventricle	heart
23	chr2:33761200-33774200	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:33761200-33783800	Weak transcription	Psoas Muscle	Psoas
25	chr2:33762000-33780200	Weak transcription	Ovary	ovary
26	chr2:33762200-33772200	Weak transcription	Left Ventricle	heart
27	chr2:33762200-33775800	Weak transcription	Lung	lung
28	chr2:33762200-33777800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:33762200-33779400	Weak transcription	Spleen	Spleen
30	chr2:33762200-33779600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:33762200-33809800	Weak transcription	Aorta	Aorta
32	chr2:33762600-33774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:33763200-33780200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:33763800-33765600	Strong transcription	Brain Hippocampus Middle	brain
35	chr2:33764400-33765800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:33764400-33765800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:33764800-33766800	Enhancers	Fetal Heart	heart
38	chr2:33764800-33771600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:33765000-33765600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:33765000-33768000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:33765200-33765600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:33765200-33765600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:33765200-33765600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:33765200-33765600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:33765200-33766000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:33765200-33766000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:33765200-33766000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:33765400-33765600	Enhancers	Right Atrium	heart
49	chr2:33765400-33765800	Enhancers	NHDF-Ad	bronchial
50	chr2:33765400-33765800	Enhancers	Osteobl	bone

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