Variant report

Variant	esv3324272
Chromosome Location	chr12:117748669-117753067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117746536..117748836-chr12:117750511..117752553,2	K562	blood:
2	chr12:117749603..117751205-chr12:117754575..117756586,2	K562	blood:
3	chr12:117746536..117748836-chr12:117750511..117752553,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs546238639	chr12:117748704-117748705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368379208	chr12:117748739-117748740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528534836	chr12:117748799-117748800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548938329	chr12:117748802-117748803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548591324	chr12:117748815-117748816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567599718	chr12:117748816-117748817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529994391	chr12:117748819-117748820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9658304	chr12:117748872-117748873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183815510	chr12:117748908-117748909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9658303	chr12:117748961-117748962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs140567242	chr12:117748999-117749000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565631323	chr12:117749051-117749052	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35994161	chr12:117749053-117749054	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66808014	chr12:117749054-117749055	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369071544	chr12:117749055-117749056	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554124787	chr12:117749060-117749061	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574818586	chr12:117749091-117749092	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189227080	chr12:117749108-117749109	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192900773	chr12:117749146-117749147	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373341143	chr12:117749150-117749151	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs41515346	chr12:117749151-117749152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546079161	chr12:117749152-117749153	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56746590	chr12:117749153-117749154	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528579941	chr12:117749191-117749192	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542270819	chr12:117749224-117749225	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371466673	chr12:117749232-117749233	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150452736	chr12:117749260-117749261	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376609433	chr12:117749290-117749291	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369890513	chr12:117749304-117749305	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201396150	chr12:117749319-117749320	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372978384	chr12:117749320-117749321	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550005340	chr12:117749322-117749323	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375497770	chr12:117749335-117749336	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369657739	chr12:117749337-117749338	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200602438	chr12:117749339-117749340	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547371716	chr12:117749344-117749345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183697436	chr12:117749349-117749350	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9658302	chr12:117749358-117749359	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199588951	chr12:117749360-117749361	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369258103	chr12:117749361-117749362	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372496012	chr12:117749366-117749367	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375810209	chr12:117749369-117749370	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565798426	chr12:117749387-117749388	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200704526	chr12:117749416-117749417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570763942	chr12:117749455-117749456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555828677	chr12:117749505-117749506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539218247	chr12:117749524-117749525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549948793	chr12:117749527-117749528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567678430	chr12:117749561-117749562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9658301	chr12:117749580-117749581	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117728000-117771200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:117739800-117771400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:117740000-117756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:117747600-117749000	Weak transcription	NHEK	skin
5	chr12:117749000-117749400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117749000-117749600	Strong transcription	NHEK	skin
7	chr12:117749200-117749400	Enhancers	Pancreas	Pancrea
8	chr12:117749400-117770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:117749600-117756400	Weak transcription	NHEK	skin
10	chr12:117751600-117752200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:117751600-117752400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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