Variant report

Variant	esv3402716
Chromosome Location	chr2:32334473-32337321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565575684	chr2:32334496-32334497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539403422	chr2:32334537-32334538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188729029	chr2:32334544-32334545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566498374	chr2:32334575-32334576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111731370	chr2:32334671-32334672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536149771	chr2:32334779-32334780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191998452	chr2:32334792-32334793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184449045	chr2:32334848-32334849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13431540	chr2:32334853-32334854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557939140	chr2:32334861-32334862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188988282	chr2:32334878-32334879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181981572	chr2:32334879-32334880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560111169	chr2:32334882-32334883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529288902	chr2:32334903-32334904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541717532	chr2:32334908-32334909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562017660	chr2:32334916-32334917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201671403	chr2:32334933-32334934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199949500	chr2:32334944-32334945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187388533	chr2:32334982-32334983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530590006	chr2:32334989-32334990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189143202	chr2:32334995-32334996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201035924	chr2:32335004-32335005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570692207	chr2:32335009-32335010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116256859	chr2:32335051-32335052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558629981	chr2:32335062-32335063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533607999	chr2:32335068-32335069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9677104	chr2:32335099-32335100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574114968	chr2:32335100-32335101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566438127	chr2:32335115-32335116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535438291	chr2:32335119-32335120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181085351	chr2:32335121-32335122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569551673	chr2:32335143-32335144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185630246	chr2:32335148-32335149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201072555	chr2:32335174-32335175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558309037	chr2:32335175-32335176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139342576	chr2:32335176-32335177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577862954	chr2:32335181-32335182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201379730	chr2:32335183-32335184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78770411	chr2:32335186-32335187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534019394	chr2:32335199-32335200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553857570	chr2:32335224-32335225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573651026	chr2:32335229-32335230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543028410	chr2:32335232-32335233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs561797691	chr2:32335269-32335270	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555168938	chr2:32335297-32335298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs564198606	chr2:32335316-32335317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575477547	chr2:32335335-32335336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190392201	chr2:32335344-32335345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149435560	chr2:32335422-32335423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182732858	chr2:32335439-32335440	Weak transcription ZNF genes & repeats	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:123 , 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	chr2:32331200-32341000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:32331400-32341200	Weak transcription	Stomach Mucosa	stomach
19	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
20	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
21	chr2:32331600-32338800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:32331600-32341000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:32331600-32341600	Weak transcription	Aorta	Aorta
24	chr2:32331600-32341600	Weak transcription	Esophagus	oesophagus
25	chr2:32331600-32343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:32331600-32343600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:32331600-32344000	Weak transcription	Brain Angular Gyrus	brain
28	chr2:32331600-32353600	Weak transcription	Brain Substantia Nigra	brain
29	chr2:32331600-32353600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:32331600-32353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:32331600-32353800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:32331600-32354400	Weak transcription	Colonic Mucosa	Colon
33	chr2:32331600-32354600	Weak transcription	Spleen	Spleen
34	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:32331600-32390200	Weak transcription	Gastric	stomach
36	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
37	chr2:32331800-32336000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:32331800-32337200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:32331800-32338800	Weak transcription	Thymus	Thymus
40	chr2:32331800-32340800	Weak transcription	Placenta	Placenta
41	chr2:32331800-32341600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:32331800-32343800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:32331800-32344000	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:32331800-32350400	Weak transcription	Lung	lung
45	chr2:32331800-32351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:32331800-32353400	Weak transcription	Fetal Kidney	kidney
47	chr2:32331800-32353600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:32331800-32360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:32332000-32338600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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