Variant report

Variant	esv2502131
Chromosome Location	chr12:47074824-47076487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46761001..46762516-chr12:47074349..47075888,2	K562	blood:
2	chr12:47074270..47075808-chr12:47077694..47079248,2	K562	blood:
3	chr12:46764550..46767963-chr12:47070058..47075038,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	chromatin interactions
ENSG00000134294	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549615885	chr12:47074837-47074838	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs148172885	chr12:47074847-47074848	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561699262	chr12:47074860-47074861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547726754	chr12:47074928-47074929	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144629192	chr12:47074929-47074930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187045917	chr12:47074930-47074931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138746397	chr12:47074958-47074959	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140440505	chr12:47074993-47074994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73098714	chr12:47075079-47075080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12579984	chr12:47075141-47075142	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572153083	chr12:47075147-47075148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534688002	chr12:47075159-47075160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145577067	chr12:47075230-47075231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191835348	chr12:47075256-47075257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544781344	chr12:47075257-47075258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557851690	chr12:47075279-47075280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184074460	chr12:47075359-47075360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371147263	chr12:47075365-47075366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563743506	chr12:47075368-47075369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574159764	chr12:47075369-47075370	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543000203	chr12:47075370-47075371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560080647	chr12:47075371-47075372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528757262	chr12:47075636-47075637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79642125	chr12:47075647-47075648	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547422825	chr12:47075672-47075673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564043620	chr12:47075673-47075674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202199824	chr12:47075698-47075699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148025940	chr12:47075707-47075708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549832616	chr12:47075796-47075797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7978714	chr12:47075797-47075798	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187594441	chr12:47075867-47075868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376934364	chr12:47075895-47075896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190019203	chr12:47075958-47075959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565647065	chr12:47075976-47075977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534558665	chr12:47075999-47076000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540239013	chr12:47076003-47076004	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116166929	chr12:47076030-47076031	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577932309	chr12:47076052-47076053	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537180682	chr12:47076054-47076055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557403397	chr12:47076076-47076077	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574194032	chr12:47076088-47076089	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117083183	chr12:47076113-47076114	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374548139	chr12:47076140-47076141	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553559347	chr12:47076164-47076165	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76462815	chr12:47076186-47076187	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150630039	chr12:47076222-47076223	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563960603	chr12:47076231-47076232	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559686685	chr12:47076334-47076335	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532921617	chr12:47076381-47076382	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6582670	chr12:47076382-47076383	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47059600-47076800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:47059800-47076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:47065200-47076200	Weak transcription	Psoas Muscle	Psoas
4	chr12:47070000-47077400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:47071000-47080600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:47071800-47077400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:47072000-47076000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:47073600-47075000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:47074200-47076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:47074600-47083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:47074800-47076000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:47074800-47076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:47074800-47076800	Weak transcription	HSMM	muscle
14	chr12:47074800-47077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:47074800-47091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:47075600-47078200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:47076000-47076200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr12:47076000-47076200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:47076000-47077800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:47076200-47076400	Enhancers	Psoas Muscle	Psoas

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