Variant report

Variant	esv2617693
Chromosome Location	chr12:38728376-38731060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538841122	chr12:38728436-38728437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202128960	chr12:38728445-38728446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74087828	chr12:38728446-38728447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199584199	chr12:38728447-38728448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534573671	chr12:38728448-38728449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554645456	chr12:38728539-38728540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560475778	chr12:38728556-38728557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77232195	chr12:38728573-38728574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191380394	chr12:38728611-38728612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183065234	chr12:38728612-38728613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185906784	chr12:38728615-38728616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191096143	chr12:38728625-38728626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565289994	chr12:38728654-38728655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10880931	chr12:38728668-38728669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183523091	chr12:38728672-38728673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560997010	chr12:38728701-38728702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146248100	chr12:38728731-38728732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113099459	chr12:38728808-38728809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112940368	chr12:38728872-38728873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386376213	chr12:38728877-38728878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386376214	chr12:38728882-38728883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35899701	chr12:38728883-38728884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12823780	chr12:38728884-38728885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144086947	chr12:38728902-38728903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532451414	chr12:38728931-38728932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552356477	chr12:38728954-38728955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188970174	chr12:38728955-38728956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528431767	chr12:38728961-38728962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192515311	chr12:38728963-38728964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182817581	chr12:38728972-38728973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188027498	chr12:38728989-38728990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192825692	chr12:38729015-38729016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67508340	chr12:38729044-38729045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144299037	chr12:38729045-38729046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371285325	chr12:38729047-38729048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201765408	chr12:38729048-38729049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71068541	chr12:38729051-38729052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146705416	chr12:38729052-38729053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531319460	chr12:38729056-38729057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539123080	chr12:38729069-38729070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7301762	chr12:38729103-38729104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs562950402	chr12:38729159-38729160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199537622	chr12:38729186-38729187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563200826	chr12:38729187-38729188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139510838	chr12:38729208-38729209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541355333	chr12:38729248-38729249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184421121	chr12:38729307-38729308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188794538	chr12:38729314-38729315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571314741	chr12:38729344-38729345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538884420	chr12:38729403-38729404	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38725200-38729400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:38729400-38730000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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