Variant report

Variant	esv1823338
Chromosome Location	chr12:73991426-73997379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs184274356	chr12:73991466-73991467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116507955	chr12:73991479-73991480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568445160	chr12:73991495-73991496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117490152	chr12:73991505-73991506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554069114	chr12:73991511-73991512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370181140	chr12:73991556-73991557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186729120	chr12:73991572-73991573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79299990	chr12:73991582-73991583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534102576	chr12:73991588-73991589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12427195	chr12:73991642-73991643	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374311104	chr12:73991676-73991677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573812660	chr12:73991684-73991685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11608269	chr12:73991711-73991712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543849694	chr12:73991724-73991725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146297071	chr12:73991782-73991783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574447439	chr12:73991872-73991873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192385902	chr12:73991905-73991906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139639219	chr12:73991939-73991940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185575442	chr12:73991965-73991966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546040287	chr12:73991977-73991978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562736501	chr12:73992007-73992008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190398138	chr12:73992020-73992021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181643548	chr12:73992048-73992049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568488479	chr12:73992074-73992075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185141181	chr12:73992085-73992086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144260192	chr12:73992193-73992194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530949377	chr12:73992254-73992255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370787349	chr12:73992256-73992257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150987182	chr12:73992340-73992341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7953612	chr12:73992354-73992355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189127603	chr12:73992450-73992451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545297131	chr12:73992486-73992487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11833832	chr12:73992508-73992509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570234401	chr12:73992540-73992541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181126982	chr12:73992541-73992542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554261332	chr12:73992570-73992571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2730548	chr12:73992585-73992586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540835721	chr12:73992654-73992655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2730549	chr12:73992674-73992675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529377871	chr12:73992694-73992695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77201500	chr12:73992699-73992700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77464770	chr12:73992778-73992779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200692192	chr12:73992790-73992791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550655175	chr12:73992806-73992807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531569238	chr12:73992814-73992815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576254437	chr12:73992815-73992816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542147899	chr12:73992850-73992851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552071358	chr12:73992902-73992903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545965401	chr12:73992935-73992936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527657277	chr12:73992941-73992942	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73991200-73992000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:73991200-73994000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:73991400-73992000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:73991600-73991800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:73991600-73993800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:73991800-73992800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:73992000-73992800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:73992000-73993600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:73992000-73994000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:73992000-73994200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:73992800-73993800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:73993600-73999600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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