Variant report

Variant	esv3373473
Chromosome Location	chr11:74001754-74004252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:74002138-74002662	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
P4HA3	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533245456	chr11:74001790-74001791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550063291	chr11:74001791-74001792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146217454	chr11:74001808-74001809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535598454	chr11:74001862-74001863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548912817	chr11:74001888-74001889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1279116	chr11:74001889-74001890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs534835999	chr11:74001914-74001915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558118652	chr11:74001924-74001925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186279435	chr11:74001940-74001941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190213017	chr11:74001970-74001971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375914624	chr11:74001984-74001985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181542799	chr11:74001992-74001993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368904609	chr11:74001996-74001997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185874143	chr11:74002004-74002005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191124536	chr11:74002024-74002025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553340225	chr11:74002068-74002069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373953876	chr11:74002074-74002075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183713948	chr11:74002078-74002079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540800779	chr11:74002114-74002115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111361731	chr11:74002138-74002139	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs375710149	chr11:74002147-74002148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564220686	chr11:74002161-74002162	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369668035	chr11:74002164-74002165	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543444995	chr11:74002193-74002194	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373095733	chr11:74002204-74002205	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554035041	chr11:74002253-74002254	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376067860	chr11:74002268-74002269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs370384259	chr11:74002271-74002272	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs372782465	chr11:74002274-74002275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377018074	chr11:74002300-74002301	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs142831135	chr11:74002302-74002303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187804922	chr11:74002303-74002304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370062821	chr11:74002377-74002378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565771715	chr11:74002398-74002399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559114798	chr11:74002409-74002410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528304577	chr11:74002425-74002426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375695787	chr11:74002442-74002443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551556971	chr11:74002465-74002466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368507833	chr11:74002497-74002498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571414248	chr11:74002501-74002502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537009920	chr11:74002517-74002518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150351694	chr11:74002538-74002539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567619122	chr11:74002542-74002543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375588476	chr11:74002566-74002567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368229149	chr11:74002569-74002570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536570310	chr11:74002602-74002603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530161679	chr11:74002604-74002605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553515055	chr11:74002653-74002654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372296880	chr11:74002662-74002663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138008407	chr11:74002666-74002667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73999800-74018400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:73999800-74022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:74000000-74013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:74000200-74006200	Weak transcription	A549	lung
5	chr11:74000200-74007600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:74000200-74018400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:74000400-74018000	Weak transcription	HUVEC	blood vessel

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