Variant report

Variant	esv3372339
Chromosome Location	chr12:47028885-47034683
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:

Extended variants
information (count: 183 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs550472593	chr12:47028909-47028910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563594913	chr12:47028910-47028911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs578059666	chr12:47028927-47028928	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531217845	chr12:47028987-47028988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187366145	chr12:47029019-47029020	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192920735	chr12:47029083-47029084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533866158	chr12:47029128-47029129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185553767	chr12:47029170-47029171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545131235	chr12:47029208-47029209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78479053	chr12:47029226-47029227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs570638719	chr12:47029255-47029256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539228067	chr12:47029305-47029306	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs190477580	chr12:47029368-47029369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs373047710	chr12:47029441-47029442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576363078	chr12:47029443-47029444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535890727	chr12:47029444-47029445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138711721	chr12:47029632-47029633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554237497	chr12:47029636-47029637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572599170	chr12:47029672-47029673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376045533	chr12:47029702-47029703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370311008	chr12:47029826-47029827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564397221	chr12:47029832-47029833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578127185	chr12:47029839-47029840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182503201	chr12:47029848-47029849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375109839	chr12:47029858-47029859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183582207	chr12:47029898-47029899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142771545	chr12:47029909-47029910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377594304	chr12:47029915-47029916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563681132	chr12:47029946-47029947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529542928	chr12:47029975-47029976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547812605	chr12:47029976-47029977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147383055	chr12:47030010-47030011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371893658	chr12:47030034-47030035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373728790	chr12:47030038-47030039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397701144	chr12:47030052-47030053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368743636	chr12:47030057-47030058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11514438	chr12:47030106-47030107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572390356	chr12:47030177-47030178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137878624	chr12:47030220-47030221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs543029244	chr12:47030228-47030229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561597572	chr12:47030289-47030290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75273011	chr12:47030440-47030441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs188320458	chr12:47030506-47030507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111695520	chr12:47030523-47030524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533159770	chr12:47030563-47030564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374406996	chr12:47030572-47030573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs149458713	chr12:47030604-47030605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs115772148	chr12:47030622-47030623	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11533726	chr12:47030666-47030667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532239784	chr12:47030681-47030682	Weak transcription ZNF genes & repeats	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47022000-47030800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:47023200-47032400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:47024000-47030800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:47025000-47030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:47025200-47030600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:47025400-47034000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:47025800-47032200	Weak transcription	NHEK	skin
8	chr12:47026000-47030800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:47026000-47035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:47027400-47032400	Weak transcription	Gastric	stomach
11	chr12:47028800-47029400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:47030200-47030800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:47030200-47034000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:47030600-47031400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:47030600-47031800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr12:47030600-47032400	ZNF genes & repeats	Dnd41	blood
17	chr12:47030800-47032200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr12:47030800-47032200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr12:47030800-47032400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:47030800-47032400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:47030800-47032400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr12:47030800-47032800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:47031000-47031200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:47031000-47031800	ZNF genes & repeats	Fetal Stomach	stomach
25	chr12:47032200-47032600	ZNF genes & repeats	NHEK	skin
26	chr12:47032400-47032600	Active TSS	Gastric	stomach
27	chr12:47032800-47042000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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