Variant report

Variant	esv3412941
Chromosome Location	chr12:106175272-106177770
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	chr12:106148181..106150211-chr12:106176354..106177966,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112080242	chr12:106175305-106175306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368029694	chr12:106175306-106175307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371612830	chr12:106175342-106175343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557930166	chr12:106175368-106175369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375887238	chr12:106175376-106175377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368944836	chr12:106175407-106175408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61940084	chr12:106175426-106175427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200409480	chr12:106175448-106175449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201301107	chr12:106175482-106175483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199658585	chr12:106175489-106175490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374100986	chr12:106175493-106175494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539555615	chr12:106175525-106175526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146770312	chr12:106175546-106175547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556205370	chr12:106175547-106175548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140486295	chr12:106175564-106175565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368691388	chr12:106175573-106175574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371847076	chr12:106175606-106175607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75554774	chr12:106175607-106175608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192018552	chr12:106175614-106175615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80221725	chr12:106175617-106175618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572688278	chr12:106175630-106175631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541307586	chr12:106175643-106175644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75366054	chr12:106175644-106175645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533320679	chr12:106175647-106175648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187174584	chr12:106175662-106175663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372827515	chr12:106175761-106175762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563352086	chr12:106175769-106175770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528932901	chr12:106175809-106175810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548990952	chr12:106175831-106175832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375251213	chr12:106175869-106175870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372218622	chr12:106175870-106175871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71072637	chr12:106175889-106175890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79955149	chr12:106175892-106175893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10861511	chr12:106175903-106175904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11112736	chr12:106175937-106175938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs116710289	chr12:106176062-106176063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11112737	chr12:106176096-106176097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552359638	chr12:106176133-106176134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71072638	chr12:106176192-106176193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398116840	chr12:106176193-106176194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531322627	chr12:106176213-106176214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60894449	chr12:106176229-106176230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11609069	chr12:106176230-106176231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11112738	chr12:106176247-106176248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59909326	chr12:106176275-106176276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10861512	chr12:106176278-106176279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141983994	chr12:106176324-106176325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10861513	chr12:106176382-106176383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549438586	chr12:106176421-106176422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200187325	chr12:106176433-106176434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106168800-106177600	Weak transcription	HSMMtube	muscle
2	chr12:106177000-106177800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr12:106177000-106179800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:106177200-106177600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr12:106177200-106177800	Enhancers	Placenta	Placenta
6	chr12:106177200-106179000	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:106177200-106179200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:106177200-106179200	Enhancers	Fetal Thymus	thymus
9	chr12:106177400-106177800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:106177400-106178800	Enhancers	Adipose Nuclei	Adipose
11	chr12:106177400-106179000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:106177400-106179200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:106177400-106179600	Enhancers	GM12878-XiMat	blood
14	chr12:106177600-106177800	Enhancers	Fetal Muscle Trunk	muscle
15	chr12:106177600-106178600	Enhancers	Spleen	Spleen
16	chr12:106177600-106178800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:106177600-106178800	Enhancers	Right Atrium	heart
18	chr12:106177600-106178800	Enhancers	HSMMtube	muscle
19	chr12:106177600-106179000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:106177600-106179400	Enhancers	Lung	lung

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