Variant report

Variant	esv3419735
Chromosome Location	chr12:48025385-48030183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48014490..48017395-chr12:48029451..48031685,2	MCF-7	breast:
2	chr12:47955362..47958310-chr12:48025284..48027406,2	MCF-7	breast:

Extended variants
information (count: 539 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535342297	chr12:48025407-48025408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376892383	chr12:48025430-48025431	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551457635	chr12:48025455-48025456	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144829294	chr12:48025489-48025490	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140108050	chr12:48025497-48025498	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557487733	chr12:48025499-48025500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542552773	chr12:48025528-48025529	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554589190	chr12:48025589-48025590	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377167133	chr12:48025590-48025591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192847735	chr12:48025618-48025619	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182756761	chr12:48025647-48025648	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187448608	chr12:48025771-48025772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555618413	chr12:48025790-48025791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192295296	chr12:48025802-48025803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541320414	chr12:48025803-48025804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563883477	chr12:48025804-48025805	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577553811	chr12:48025809-48025810	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568159432	chr12:48025814-48025815	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543058399	chr12:48025845-48025846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563022692	chr12:48025881-48025882	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145519935	chr12:48025988-48025989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549130342	chr12:48025989-48025990	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147381065	chr12:48026006-48026007	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112061097	chr12:48026012-48026013	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545322088	chr12:48026034-48026035	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563213067	chr12:48026044-48026045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552042885	chr12:48026048-48026049	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571895072	chr12:48026053-48026054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111494374	chr12:48026056-48026057	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575956362	chr12:48026057-48026058	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530906241	chr12:48026061-48026062	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs12423637	chr12:48026063-48026064	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551031794	chr12:48026065-48026066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs202134080	chr12:48026089-48026090	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200047356	chr12:48026098-48026099	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184874888	chr12:48026102-48026103	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73113161	chr12:48026144-48026145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566912965	chr12:48026148-48026149	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555225685	chr12:48026181-48026182	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78823223	chr12:48026184-48026185	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534553633	chr12:48026196-48026197	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558026863	chr12:48026209-48026210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4768839	chr12:48026295-48026296	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568480233	chr12:48026301-48026302	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs542999147	chr12:48026307-48026308	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546354586	chr12:48026331-48026332	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573372712	chr12:48026358-48026359	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117663107	chr12:48026370-48026371	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559223786	chr12:48026382-48026383	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528683125	chr12:48026392-48026393	Weak transcription Strong 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:112 , 50 per page) page: 1 2 3

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	chr12:48010200-48027800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:48011600-48029600	Weak transcription	HSMM	muscle
14	chr12:48013000-48025600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:48013000-48029000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:48014200-48025400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:48014600-48029200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:48014800-48030600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:48016000-48044400	Weak transcription	NH-A	brain
21	chr12:48018000-48036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:48018600-48026000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:48018600-48029000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:48018800-48028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:48018800-48029000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:48018800-48030600	Weak transcription	Fetal Stomach	stomach
27	chr12:48020000-48027400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:48020800-48029800	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:48021200-48028200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:48023000-48030400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:48023600-48044800	Weak transcription	Gastric	stomach
32	chr12:48024000-48028400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:48024000-48028800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:48024200-48025800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:48024200-48025800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:48024400-48025600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:48024400-48025800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:48024400-48025800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:48024400-48025800	Strong transcription	Adipose Nuclei	Adipose
40	chr12:48024400-48026000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:48024400-48026200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr12:48024400-48026400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:48024400-48028800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:48024600-48025400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:48024600-48025800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:48024600-48025800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr12:48024600-48026400	Strong transcription	A549	lung
48	chr12:48024800-48030600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:48025000-48030800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:48025200-48025400	Strong transcription	Primary T cells from cord blood	blood

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