Variant report

Variant	esv3500718
Chromosome Location	chr12:48707685-48712083
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	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530841372	chr12:48707697-48707698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12322347	chr12:48707698-48707699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs12322348	chr12:48707699-48707700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539721101	chr12:48707702-48707703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535836813	chr12:48707709-48707710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546750271	chr12:48707710-48707711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566570666	chr12:48707762-48707763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539280407	chr12:48707867-48707868	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369006102	chr12:48707874-48707875	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552135817	chr12:48707896-48707897	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34661560	chr12:48707903-48707904	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575860895	chr12:48707919-48707920	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538554347	chr12:48707923-48707924	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554933101	chr12:48707946-48707947	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566834575	chr12:48707992-48707993	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534205255	chr12:48708044-48708045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76189775	chr12:48708073-48708074	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs560258432	chr12:48708118-48708119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576915340	chr12:48708126-48708127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545850472	chr12:48708128-48708129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564737365	chr12:48708139-48708140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574061861	chr12:48708148-48708149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376120742	chr12:48708160-48708161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530590418	chr12:48708195-48708196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538379023	chr12:48708213-48708214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550866692	chr12:48708218-48708219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561008792	chr12:48708245-48708246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2634691	chr12:48708259-48708260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs546611382	chr12:48708266-48708267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188600259	chr12:48708292-48708293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564861030	chr12:48708334-48708335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77622747	chr12:48708359-48708360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76009515	chr12:48708392-48708393	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs137856490	chr12:48708418-48708419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78651205	chr12:48708483-48708484	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs11168519	chr12:48708493-48708494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192292261	chr12:48708497-48708498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372283335	chr12:48708560-48708561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12423404	chr12:48708568-48708569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs537661624	chr12:48708600-48708601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115908356	chr12:48708682-48708683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533969521	chr12:48708715-48708716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369862329	chr12:48708801-48708802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35684412	chr12:48708802-48708803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116271867	chr12:48708897-48708898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576777798	chr12:48708957-48708958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549091980	chr12:48708967-48708968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76674278	chr12:48708977-48708978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74723272	chr12:48708978-48708979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545914261	chr12:48708986-48708987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48705400-48707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48707800-48708000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:48707800-48708000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48708000-48709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:48709600-48710000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:48709600-48710200	Weak transcription	Stomach Smooth Muscle	stomach

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