Variant report

Variant	esv3498607
Chromosome Location	chr12:120858938-120859368
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	chr12:120853276..120854931-chr12:120858325..120861009,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12302952	chr12:120858971-120858972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142046971	chr12:120858972-120858973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79801220	chr12:120858987-120858988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537129126	chr12:120858998-120858999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113909629	chr12:120859000-120859001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557070668	chr12:120859058-120859059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374461932	chr12:120859098-120859099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386766971	chr12:120859102-120859103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386766972	chr12:120859112-120859113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577136626	chr12:120859182-120859183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377343995	chr12:120859185-120859186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570507120	chr12:120859186-120859187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2516079	chr12:120859188-120859189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184069097	chr12:120859251-120859252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562654409	chr12:120859253-120859254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188411540	chr12:120859261-120859262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386766974	chr12:120859265-120859266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376045565	chr12:120859284-120859285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373146412	chr12:120859331-120859332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373092594	chr12:120859342-120859343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59325056	chr12:120859344-120859345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199925157	chr12:120859345-120859346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201013907	chr12:120859347-120859348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2859282	chr12:120859363-120859364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
2	chr12:120852400-120875200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:120856400-120866400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:120858000-120862400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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