Variant report

Variant	esv1848054
Chromosome Location	chr12:47018846-47033254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:
2	chr12:47018512..47021454-chr12:47022647..47024563,2	K562	blood:
3	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:
4	chr12:47004476..47006389-chr12:47019123..47021406,2	K562	blood:
5	chr12:47018512..47021454-chr12:47022647..47024563,3	K562	blood:
6	chr12:47018512..47021454-chr12:47022647..47024563,3	K562	blood:
7	chr12:47018512..47021454-chr12:47022647..47024563,2	K562	blood:

Extended variants
information (count: 490 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12306495	chr12:47018846-47018847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547119520	chr12:47018872-47018873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370265698	chr12:47018916-47018917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142960200	chr12:47018942-47018943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553036548	chr12:47018964-47018965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565714794	chr12:47018975-47018976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539587878	chr12:47018999-47019000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562760241	chr12:47019004-47019005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544992610	chr12:47019055-47019056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564991948	chr12:47019078-47019079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150734336	chr12:47019149-47019150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544433638	chr12:47019156-47019157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12319714	chr12:47019158-47019159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139115096	chr12:47019162-47019163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374591110	chr12:47019188-47019189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546506974	chr12:47019191-47019192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149877193	chr12:47019215-47019216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368159181	chr12:47019251-47019252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182363597	chr12:47019255-47019256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376870810	chr12:47019276-47019277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550542629	chr12:47019282-47019283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112583724	chr12:47019307-47019308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539707841	chr12:47019308-47019309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537950719	chr12:47019386-47019387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548793583	chr12:47019438-47019439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568544511	chr12:47019452-47019453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140592139	chr12:47019476-47019477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144477910	chr12:47019542-47019543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545173153	chr12:47019554-47019555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577565572	chr12:47019556-47019557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372364536	chr12:47019594-47019595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538644991	chr12:47019606-47019607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558255435	chr12:47019681-47019682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575341682	chr12:47019688-47019689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186062594	chr12:47019795-47019796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79404032	chr12:47019850-47019851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191356684	chr12:47019908-47019909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539994627	chr12:47019940-47019941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183172870	chr12:47019945-47019946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2160892	chr12:47019988-47019989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188645492	chr12:47019999-47020000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141281433	chr12:47020035-47020036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531869502	chr12:47020039-47020040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143573405	chr12:47020041-47020042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534125746	chr12:47020073-47020074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568536147	chr12:47020115-47020116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534392610	chr12:47020147-47020148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555478791	chr12:47020195-47020196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151062980	chr12:47020202-47020203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141006586	chr12:47020240-47020241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Myelofibrosis	22110671	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47003000-47021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47003200-47025600	Weak transcription	NHEK	skin
3	chr12:47004800-47023200	Weak transcription	Pancreas	Pancrea
4	chr12:47018000-47019000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:47018200-47019000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:47018400-47019000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:47019000-47021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:47019200-47019400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:47019400-47019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:47020000-47020200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:47020200-47023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:47020600-47023000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr12:47021600-47021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:47021600-47022000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:47021600-47022000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:47021600-47022000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:47021600-47023600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:47021600-47023800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:47021800-47022000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:47021800-47022000	Enhancers	Psoas Muscle	Psoas
21	chr12:47021800-47022000	Enhancers	Osteobl	bone
22	chr12:47021800-47025200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:47022000-47023000	Weak transcription	Osteobl	bone
24	chr12:47022000-47023200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:47022000-47023200	Weak transcription	Psoas Muscle	Psoas
26	chr12:47022000-47025200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:47022000-47025200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:47022000-47030800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:47022800-47023400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:47023000-47023200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr12:47023000-47023200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:47023000-47023400	Enhancers	Osteobl	bone
33	chr12:47023000-47023800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:47023000-47024000	Enhancers	Fetal Intestine Small	intestine
35	chr12:47023200-47024000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:47023200-47024000	Enhancers	Fetal Intestine Large	intestine
37	chr12:47023200-47024000	Enhancers	Gastric	stomach
38	chr12:47023200-47024000	Enhancers	Pancreas	Pancrea
39	chr12:47023200-47024000	Enhancers	Psoas Muscle	Psoas
40	chr12:47023200-47024200	Enhancers	Liver	Liver
41	chr12:47023200-47028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:47023200-47032400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:47023400-47023600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:47023400-47024000	Enhancers	Stomach Mucosa	stomach
45	chr12:47023400-47024000	Enhancers	HepG2	liver
46	chr12:47023400-47025000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:47023400-47025200	Weak transcription	Osteobl	bone
48	chr12:47023600-47025200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:47023800-47024600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:47023800-47027200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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