Variant report

Variant	esv988370
Chromosome Location	chr12:118240136-118249923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118241568..118244014-chr12:118246207..118248673,2	MCF-7	breast:
2	chr12:118241568..118244014-chr12:118246207..118248673,2	MCF-7	breast:
3	chr12:118233366..118234895-chr12:118237416..118240307,2	MCF-7	breast:

Extended variants
information (count: 372 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148561678	chr12:118240241-118240242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4766880	chr12:118240245-118240246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs61939860	chr12:118240250-118240251	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528588958	chr12:118240350-118240351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548719342	chr12:118240378-118240379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568580891	chr12:118240421-118240422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117360140	chr12:118240429-118240430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529255571	chr12:118240449-118240450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537713140	chr12:118240464-118240465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553152593	chr12:118240493-118240494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557213646	chr12:118240529-118240530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570835961	chr12:118240617-118240618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188049309	chr12:118240621-118240622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552591099	chr12:118240666-118240667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549132847	chr12:118240690-118240691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572562115	chr12:118240770-118240771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10850903	chr12:118240793-118240794	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs375342991	chr12:118240857-118240858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555505395	chr12:118240871-118240872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575332614	chr12:118240882-118240883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527591395	chr12:118240892-118240893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369412223	chr12:118240903-118240904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192569296	chr12:118240927-118240928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74568797	chr12:118240928-118240929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182590201	chr12:118240960-118240961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187752408	chr12:118240972-118240973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567365254	chr12:118241009-118241010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145596250	chr12:118241053-118241054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548406733	chr12:118241057-118241058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192662983	chr12:118241070-118241071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368506356	chr12:118241076-118241077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530988166	chr12:118241084-118241085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550808394	chr12:118241124-118241125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2121299	chr12:118241125-118241126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374161342	chr12:118241187-118241188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377333816	chr12:118241188-118241189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539752769	chr12:118241190-118241191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552503536	chr12:118241191-118241192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147272392	chr12:118241197-118241198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140849100	chr12:118241234-118241235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370859538	chr12:118241273-118241274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555147835	chr12:118241283-118241284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575345369	chr12:118241332-118241333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374453968	chr12:118241334-118241335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570704214	chr12:118241371-118241372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11615079	chr12:118241376-118241377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557996127	chr12:118241380-118241381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577966260	chr12:118241401-118241402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549881418	chr12:118241421-118241422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1724012	chr12:118241443-118241444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118232600-118246400	Weak transcription	Pancreas	Pancrea
2	chr12:118237200-118254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118239400-118240600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:118239600-118240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:118240200-118241200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:118240400-118240800	Enhancers	Fetal Intestine Small	intestine
7	chr12:118240400-118241000	Enhancers	Fetal Intestine Large	intestine
8	chr12:118240600-118241000	Enhancers	Liver	Liver
9	chr12:118240600-118241200	Enhancers	HepG2	liver
10	chr12:118240600-118241400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr12:118240600-118241600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:118240600-118241800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:118240800-118241600	Weak transcription	Fetal Intestine Small	intestine
14	chr12:118241200-118242600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:118241600-118242400	Enhancers	Fetal Intestine Small	intestine
16	chr12:118241600-118245000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:118242600-118243200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:118244600-118245000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:118245000-118245400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr12:118245400-118246600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:118246000-118246200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:118246400-118246800	Enhancers	Pancreas	Pancrea
23	chr12:118246600-118247600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:118247600-118248400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:118248400-118252200	Weak transcription	Placenta Amnion	Placenta Amnion

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