Variant report

Variant	esv3358495
Chromosome Location	chr2:32333998-32337596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570310326	chr2:32333998-32333999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187445281	chr2:32334002-32334003	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553672632	chr2:32334025-32334026	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377648603	chr2:32334035-32334036	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112159837	chr2:32334069-32334070	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542570801	chr2:32334084-32334085	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555682192	chr2:32334105-32334106	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575837393	chr2:32334142-32334143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544341246	chr2:32334149-32334150	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572995151	chr2:32334172-32334173	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192736495	chr2:32334199-32334200	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200059279	chr2:32334221-32334222	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540248990	chr2:32334233-32334234	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560148672	chr2:32334248-32334249	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369777799	chr2:32334252-32334253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146831889	chr2:32334280-32334281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184705118	chr2:32334281-32334282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574298773	chr2:32334303-32334304	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568152310	chr2:32334328-32334329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530741846	chr2:32334397-32334398	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550357038	chr2:32334469-32334470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565575684	chr2:32334496-32334497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539403422	chr2:32334537-32334538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188729029	chr2:32334544-32334545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566498374	chr2:32334575-32334576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111731370	chr2:32334671-32334672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536149771	chr2:32334779-32334780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191998452	chr2:32334792-32334793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184449045	chr2:32334848-32334849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13431540	chr2:32334853-32334854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557939140	chr2:32334861-32334862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188988282	chr2:32334878-32334879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181981572	chr2:32334879-32334880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560111169	chr2:32334882-32334883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529288902	chr2:32334903-32334904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541717532	chr2:32334908-32334909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562017660	chr2:32334916-32334917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201671403	chr2:32334933-32334934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199949500	chr2:32334944-32334945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187388533	chr2:32334982-32334983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530590006	chr2:32334989-32334990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189143202	chr2:32334995-32334996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201035924	chr2:32335004-32335005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570692207	chr2:32335009-32335010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116256859	chr2:32335051-32335052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558629981	chr2:32335062-32335063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533607999	chr2:32335068-32335069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9677104	chr2:32335099-32335100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574114968	chr2:32335100-32335101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566438127	chr2:32335115-32335116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:32295800-32353800	Weak transcription	Fetal Brain Male	brain
5	chr2:32296400-32362600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:32297600-32360600	Weak transcription	Osteobl	bone
7	chr2:32298800-32341400	Weak transcription	Small Intestine	intestine
8	chr2:32300000-32339600	Weak transcription	HepG2	liver
9	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
10	chr2:32313200-32360600	Weak transcription	NH-A	brain
11	chr2:32316000-32353600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:32316200-32343200	Weak transcription	HSMM	muscle
13	chr2:32322200-32353400	Weak transcription	K562	blood
14	chr2:32325400-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:32326000-32352200	Weak transcription	HSMMtube	muscle
16	chr2:32330200-32334000	Strong transcription	Fetal Thymus	thymus
17	chr2:32330400-32334000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:32330800-32334400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr2:32330800-32334400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:32331200-32341000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:32331400-32341200	Weak transcription	Stomach Mucosa	stomach
23	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
24	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
25	chr2:32331600-32334000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:32331600-32334200	Strong transcription	Fetal Intestine Large	intestine
27	chr2:32331600-32334200	Strong transcription	Dnd41	blood
28	chr2:32331600-32338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:32331600-32341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:32331600-32341600	Weak transcription	Aorta	Aorta
31	chr2:32331600-32341600	Weak transcription	Esophagus	oesophagus
32	chr2:32331600-32343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:32331600-32343600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:32331600-32344000	Weak transcription	Brain Angular Gyrus	brain
35	chr2:32331600-32353600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:32331600-32353600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:32331600-32353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:32331600-32353800	Weak transcription	Brain Anterior Caudate	brain
39	chr2:32331600-32354400	Weak transcription	Colonic Mucosa	Colon
40	chr2:32331600-32354600	Weak transcription	Spleen	Spleen
41	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:32331600-32390200	Weak transcription	Gastric	stomach
43	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
44	chr2:32331800-32334200	Strong transcription	Brain Germinal Matrix	brain
45	chr2:32331800-32336000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:32331800-32337200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:32331800-32338800	Weak transcription	Thymus	Thymus
48	chr2:32331800-32340800	Weak transcription	Placenta	Placenta
49	chr2:32331800-32341600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:32331800-32343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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