Variant report

Variant	esv2547667
Chromosome Location	chr12:75111107-75116296
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	chr12:75106983..75109185-chr12:75115008..75117745,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141854334	chr12:75111123-75111124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59792000	chr12:75111170-75111171	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554714748	chr12:75111173-75111174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568127807	chr12:75111194-75111195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61932625	chr12:75111217-75111218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553830085	chr12:75111249-75111250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576893407	chr12:75111320-75111321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7972303	chr12:75111321-75111322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556419420	chr12:75111333-75111334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143695074	chr12:75111345-75111346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541970163	chr12:75111356-75111357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561865001	chr12:75111415-75111416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75228340	chr12:75111527-75111528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527754391	chr12:75111543-75111544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541107854	chr12:75111570-75111571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564178253	chr12:75111615-75111616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10879828	chr12:75111646-75111647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550208303	chr12:75111664-75111665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563966934	chr12:75111665-75111666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529478435	chr12:75111668-75111669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78734799	chr12:75111669-75111670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12366985	chr12:75111676-75111677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200278909	chr12:75111677-75111678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183484419	chr12:75111685-75111686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550728993	chr12:75111688-75111689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572534381	chr12:75111692-75111693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10785143	chr12:75111696-75111697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147809284	chr12:75111697-75111698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533909638	chr12:75111700-75111701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188312483	chr12:75111708-75111709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553001059	chr12:75111712-75111713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547506537	chr12:75111716-75111717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373698276	chr12:75111734-75111735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200456010	chr12:75111737-75111738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201734350	chr12:75111738-75111739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201792238	chr12:75111741-75111742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371402952	chr12:75111745-75111746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150104378	chr12:75111754-75111755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67812589	chr12:75111755-75111756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112361604	chr12:75111757-75111758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200444549	chr12:75111766-75111767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539371934	chr12:75111772-75111773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12824913	chr12:75111779-75111780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111986249	chr12:75111783-75111784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140032768	chr12:75111812-75111813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11180181	chr12:75111825-75111826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28396882	chr12:75111846-75111847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530692247	chr12:75111848-75111849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377032882	chr12:75111849-75111850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576255170	chr12:75111901-75111902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75110800-75111400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:75110800-75116600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:75115000-75116800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:75115800-75116200	Enhancers	Left Ventricle	heart
5	chr12:75115800-75116400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:75116000-75116200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:75116000-75116400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:75116000-75116400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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