Variant report

Variant	esv3500685
Chromosome Location	chr12:47026785-47031883
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	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:
2	chr12:47025079..47028602-chr12:47029579..47033419,4	MCF-7	breast:

Extended variants
information (count: 166 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs566358013	chr12:47026805-47026806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538600473	chr12:47026814-47026815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150748983	chr12:47026830-47026831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558371852	chr12:47026834-47026835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185838889	chr12:47026835-47026836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544041323	chr12:47026867-47026868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12320033	chr12:47026889-47026890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574427033	chr12:47026914-47026915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144190932	chr12:47026919-47026920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190697217	chr12:47026938-47026939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560368987	chr12:47026950-47026951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12320094	chr12:47026979-47026980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183881889	chr12:47027011-47027012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562885180	chr12:47027021-47027022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146557313	chr12:47027029-47027030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548825738	chr12:47027034-47027035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568652258	chr12:47027126-47027127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1118658	chr12:47027153-47027154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547794953	chr12:47027183-47027184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376053382	chr12:47027270-47027271	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549459189	chr12:47027312-47027313	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571077669	chr12:47027437-47027438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188828170	chr12:47027439-47027440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190911398	chr12:47027477-47027478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568906242	chr12:47027499-47027500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149142309	chr12:47027509-47027510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs566708500	chr12:47027531-47027532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs1895088	chr12:47027537-47027538	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs369173198	chr12:47027562-47027563	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs531977149	chr12:47027570-47027571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182472851	chr12:47027590-47027591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571389270	chr12:47027598-47027599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538323350	chr12:47027615-47027616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539994526	chr12:47027692-47027693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375001890	chr12:47027704-47027705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577061448	chr12:47027790-47027791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547381586	chr12:47027814-47027815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116442677	chr12:47027835-47027836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562876686	chr12:47027914-47027915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79605106	chr12:47027937-47027938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542356651	chr12:47027974-47027975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536238784	chr12:47028005-47028006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12824550	chr12:47028021-47028022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554093632	chr12:47028027-47028028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199564592	chr12:47028039-47028040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117724386	chr12:47028049-47028050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532678519	chr12:47028123-47028124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533674054	chr12:47028146-47028147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186918124	chr12:47028157-47028158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568528816	chr12:47028160-47028161	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47022000-47030800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:47023200-47028400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:47023200-47032400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:47023800-47027200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:47024000-47026800	Weak transcription	Pancreas	Pancrea
6	chr12:47024000-47027200	Weak transcription	Gastric	stomach
7	chr12:47024000-47030800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:47025000-47030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:47025200-47030600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:47025400-47034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:47025800-47032200	Weak transcription	NHEK	skin
12	chr12:47026000-47030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:47026000-47035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:47027200-47027400	Enhancers	Gastric	stomach
15	chr12:47027200-47027400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr12:47027400-47027600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:47027400-47032400	Weak transcription	Gastric	stomach
18	chr12:47028800-47029400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:47030200-47030800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:47030200-47034000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:47030600-47031400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:47030600-47031800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr12:47030600-47032400	ZNF genes & repeats	Dnd41	blood
24	chr12:47030800-47032200	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr12:47030800-47032200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr12:47030800-47032400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:47030800-47032400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:47030800-47032400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr12:47030800-47032800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:47031000-47031200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:47031000-47031800	ZNF genes & repeats	Fetal Stomach	stomach

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