Variant report

Variant	esv3420424
Chromosome Location	chr12:73392785-73397083
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	chr12:73278361..73280409-chr12:73393211..73395574,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs117376450	chr12:73392837-73392838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74105811	chr12:73392848-73392849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11561498	chr12:73392882-73392883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12426027	chr12:73392897-73392898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531651363	chr12:73392976-73392977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549699937	chr12:73393052-73393053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567994690	chr12:73393065-73393066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151291937	chr12:73393069-73393070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547183624	chr12:73393094-73393095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180701685	chr12:73393129-73393130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540598744	chr12:73393136-73393137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145890986	chr12:73393137-73393138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539130816	chr12:73393138-73393139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557748023	chr12:73393144-73393145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117516901	chr12:73393150-73393151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11543407	chr12:73393155-73393156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375146681	chr12:73393207-73393208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556942772	chr12:73393224-73393225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575200557	chr12:73393269-73393270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542450672	chr12:73393270-73393271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185323297	chr12:73393281-73393282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188463665	chr12:73393306-73393307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140570433	chr12:73393312-73393313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11543408	chr12:73393318-73393319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111323720	chr12:73393349-73393350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182352224	chr12:73393359-73393360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531638462	chr12:73393361-73393362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543409835	chr12:73393382-73393383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571207814	chr12:73393443-73393444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533668603	chr12:73393494-73393495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529114440	chr12:73393499-73393500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11504298	chr12:73393555-73393556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187350229	chr12:73393566-73393567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147112892	chr12:73393567-73393568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191739464	chr12:73393617-73393618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569728626	chr12:73393666-73393667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537082105	chr12:73393671-73393672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555361346	chr12:73393682-73393683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75881959	chr12:73393685-73393686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183519925	chr12:73393686-73393687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185320826	chr12:73393765-73393766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75538071	chr12:73393848-73393849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76220703	chr12:73393880-73393881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537545238	chr12:73393923-73393924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116411758	chr12:73393997-73393998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568498135	chr12:73394047-73394048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576474994	chr12:73394093-73394094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543423927	chr12:73394100-73394101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545094462	chr12:73394104-73394105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138583878	chr12:73394169-73394170	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
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73376800-73394200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:73394200-73394600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:73394200-73395400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:73394200-73395800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:73394400-73394800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:73394400-73395600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:73394400-73395800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:73394600-73395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:73394800-73395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:73395000-73395600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:73395200-73395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:73395400-73395800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:73395600-73396800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:73395600-73399800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:73395800-73396400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:73395800-73396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:73395800-73396600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:73396400-73398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:73396600-73396800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:73396600-73397800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
21	chr12:73396800-73397000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:73396800-73401200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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