Variant report

Variant	esv3430292
Chromosome Location	chr12:20985785-20988508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs561649536	chr12:20985805-20985806	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527487694	chr12:20985852-20985853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371477699	chr12:20985853-20985854	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4762789	chr12:20985877-20985878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147515912	chr12:20985883-20985884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149766440	chr12:20985884-20985885	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs67179123	chr12:20985885-20985886	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs386375834	chr12:20985887-20985888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs59911776	chr12:20985889-20985890	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375171871	chr12:20985890-20985891	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116368734	chr12:20985891-20985892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10841662	chr12:20985903-20985904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570167812	chr12:20985935-20985936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539070923	chr12:20985943-20985944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116150874	chr12:20985977-20985978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189588259	chr12:20986022-20986023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192275665	chr12:20986044-20986045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140234104	chr12:20986052-20986053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12824927	chr12:20986061-20986062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185865142	chr12:20986076-20986077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558286851	chr12:20986079-20986080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578118649	chr12:20986084-20986085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543918121	chr12:20986087-20986088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551127130	chr12:20986110-20986111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571338242	chr12:20986112-20986113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372594767	chr12:20986152-20986153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200017217	chr12:20986155-20986156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78409307	chr12:20986159-20986160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542145954	chr12:20986202-20986203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189137719	chr12:20986222-20986223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11045537	chr12:20986252-20986253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527482578	chr12:20986259-20986260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375513815	chr12:20986275-20986276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563858060	chr12:20986340-20986341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549997566	chr12:20986369-20986370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569006778	chr12:20986408-20986409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369856531	chr12:20986429-20986430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181569264	chr12:20986431-20986432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12825751	chr12:20986451-20986452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528875025	chr12:20986454-20986455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568081672	chr12:20986455-20986456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535802932	chr12:20986457-20986458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549660884	chr12:20986470-20986471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149877438	chr12:20986474-20986475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34356065	chr12:20986487-20986488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184212087	chr12:20986491-20986492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535244102	chr12:20986502-20986503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12827316	chr12:20986515-20986516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11045538	chr12:20986534-20986535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs376908316	chr12:20986537-20986538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
2	chr12:20983600-20995600	Weak transcription	Liver	Liver
3	chr12:20985400-20986000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:20985600-20986000	Flanking Active TSS	A549	lung
5	chr12:20985600-20986200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:20985800-20986200	Enhancers	Brain Substantia Nigra	brain
7	chr12:20986000-20986200	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:20986000-20986200	Enhancers	A549	lung
9	chr12:20986000-20987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:20986200-20990800	Weak transcription	A549	lung
11	chr12:20987600-20987800	Enhancers	Pancreas	Pancrea
12	chr12:20987800-20988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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