Variant report

Variant	esv3497075
Chromosome Location	chr12:62907334-62908015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367732963	chr12:62907353-62907354	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs574190041	chr12:62907362-62907363	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542894203	chr12:62907398-62907399	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377367613	chr12:62907416-62907417	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527963698	chr12:62907417-62907418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563096008	chr12:62907502-62907503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186823614	chr12:62907514-62907515	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545084677	chr12:62907532-62907533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370054308	chr12:62907591-62907592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564952882	chr12:62907593-62907594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138329194	chr12:62907602-62907603	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61919476	chr12:62907622-62907623	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566608647	chr12:62907634-62907635	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529177680	chr12:62907645-62907646	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146129194	chr12:62907668-62907669	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61919477	chr12:62907672-62907673	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111268837	chr12:62907678-62907679	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148312103	chr12:62907716-62907717	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190115287	chr12:62907717-62907718	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376079490	chr12:62907725-62907726	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192952245	chr12:62907737-62907738	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547695465	chr12:62907738-62907739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574301898	chr12:62907769-62907770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571287138	chr12:62907770-62907771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149440462	chr12:62907792-62907793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556375542	chr12:62907834-62907835	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370440271	chr12:62907904-62907905	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61919478	chr12:62907911-62907912	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76158027	chr12:62907968-62907969	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573880955	chr12:62907973-62907974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34477312	chr12:62908007-62908008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
2	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:62866600-62912400	Weak transcription	NHLF	lung
5	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
6	chr12:62871000-62910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
8	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:62876000-62937400	Weak transcription	Gastric	stomach
10	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:62886000-62911200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:62889200-62949600	Weak transcription	Small Intestine	intestine
14	chr12:62892800-62911200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:62894400-62926200	Weak transcription	NH-A	brain
16	chr12:62897000-62916400	Weak transcription	Fetal Heart	heart
17	chr12:62897600-62931000	Weak transcription	K562	blood
18	chr12:62897600-62944000	Weak transcription	Esophagus	oesophagus
19	chr12:62897800-62911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:62898000-62923400	Weak transcription	NHDF-Ad	bronchial
21	chr12:62898600-62912800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:62900600-62909600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:62901200-62909000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:62901800-62907800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:62902400-62911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:62902400-62929200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:62902600-62912200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:62902600-62913200	Weak transcription	Ovary	ovary
29	chr12:62902600-62926600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:62902600-62927000	Weak transcription	Colonic Mucosa	Colon
31	chr12:62903600-62908000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:62903600-62909000	Weak transcription	Fetal Kidney	kidney
33	chr12:62903600-62912400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:62903600-62917000	Weak transcription	HepG2	liver
35	chr12:62903600-62918800	Weak transcription	Osteobl	bone
36	chr12:62903600-62926200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:62903600-62926200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:62903600-62926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:62903600-62949800	Weak transcription	NHEK	skin
40	chr12:62903800-62911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:62903800-62924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:62903800-62926200	Weak transcription	Hela-S3	cervix
43	chr12:62904200-62910800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:62904400-62908400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:62904400-62908600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:62904400-62912000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:62904400-62915800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:62904400-62926200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:62904600-62926200	Weak transcription	HMEC	breast
50	chr12:62904600-62927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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