Variant report

Variant	esv3374456
Chromosome Location	chr12:48028117-48028546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543579113	chr12:48028118-48028119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563541863	chr12:48028133-48028134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529518270	chr12:48028142-48028143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs62648628	chr12:48028150-48028151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566290093	chr12:48028155-48028156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200896485	chr12:48028167-48028168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375020231	chr12:48028168-48028169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551833022	chr12:48028171-48028172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192143111	chr12:48028178-48028179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114691088	chr12:48028188-48028189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556355243	chr12:48028210-48028211	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs117965278	chr12:48028229-48028230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs79122148	chr12:48028237-48028238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs371540666	chr12:48028238-48028239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs535339670	chr12:48028248-48028249	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375952702	chr12:48028251-48028252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs57245884	chr12:48028255-48028256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200006398	chr12:48028260-48028261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs557321394	chr12:48028261-48028262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs374774324	chr12:48028262-48028263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144287732	chr12:48028269-48028270	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572287337	chr12:48028277-48028278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540984500	chr12:48028279-48028280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs377394234	chr12:48028285-48028286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370996910	chr12:48028293-48028294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371495001	chr12:48028295-48028296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76238569	chr12:48028302-48028303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs371679294	chr12:48028303-48028304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369644488	chr12:48028316-48028317	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373438741	chr12:48028317-48028318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs114769924	chr12:48028320-48028321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs55716184	chr12:48028325-48028326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375592096	chr12:48028332-48028333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs377496145	chr12:48028333-48028334	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148798011	chr12:48028340-48028341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs367552019	chr12:48028341-48028342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs61919839	chr12:48028346-48028347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs61919840	chr12:48028350-48028351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs55798881	chr12:48028355-48028356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs61919841	chr12:48028358-48028359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557350678	chr12:48028359-48028360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs55792111	chr12:48028360-48028361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs61919842	chr12:48028362-48028363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75675699	chr12:48028364-48028365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs73102104	chr12:48028367-48028368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs61919843	chr12:48028368-48028369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs55683946	chr12:48028369-48028370	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs56239939	chr12:48028373-48028374	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74895653	chr12:48028374-48028375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371677630	chr12:48028381-48028382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47998800-48030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
3	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
4	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:48007600-48028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:48007600-48032000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:48007600-48037600	Weak transcription	Left Ventricle	heart
8	chr12:48008400-48029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48008600-48033400	Weak transcription	Pancreas	Pancrea
10	chr12:48009000-48032200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:48009800-48036200	Weak transcription	Ovary	ovary
12	chr12:48011600-48029600	Weak transcription	HSMM	muscle
13	chr12:48013000-48029000	Weak transcription	Primary B cells from cord blood	blood
14	chr12:48014600-48029200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:48014800-48030600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:48016000-48044400	Weak transcription	NH-A	brain
18	chr12:48018000-48036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:48018600-48029000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:48018800-48028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:48018800-48029000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:48018800-48030600	Weak transcription	Fetal Stomach	stomach
23	chr12:48020800-48029800	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:48021200-48028200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:48023000-48030400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:48023600-48044800	Weak transcription	Gastric	stomach
27	chr12:48024000-48028400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:48024000-48028800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:48024400-48028800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:48024800-48030600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:48025000-48030800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:48025200-48036000	Weak transcription	Fetal Lung	lung
33	chr12:48025600-48032000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:48025600-48032200	Weak transcription	Primary T cells from cord blood	blood
35	chr12:48025800-48029800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:48025800-48030600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:48025800-48032400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:48026000-48029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:48026200-48029000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:48026400-48029000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:48026400-48029000	Weak transcription	A549	lung
42	chr12:48027000-48030000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr12:48027200-48028400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr12:48027400-48029600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:48027600-48028400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr12:48028000-48031600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:48028200-48028600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr12:48028400-48030600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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