Variant report

Variant	esv3322828
Chromosome Location	chr11:71910304-71914502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71912622..71915956-chr11:71917923..71921689,3	K562	blood:
2	chr11:71913109..71914798-chr11:71920189..71923026,2	K562	blood:
3	chr11:71911826..71915814-chr11:71931588..71936470,5	MCF-7	breast:
4	chr11:71820511..71822627-chr11:71909286..71911348,2	MCF-7	breast:
5	chr11:71911722..71914481-chr11:71934038..71936819,2	MCF-7	breast:
6	chr11:71738692..71740500-chr11:71910713..71912758,2	K562	blood:
7	chr11:71843841..71846091-chr11:71912939..71915274,2	MCF-7	breast:
8	chr11:71830114..71831813-chr11:71912584..71915054,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204971	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000165458	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544105772	chr11:71910310-71910311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11235463	chr11:71910316-71910317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529658947	chr11:71910328-71910329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182343678	chr11:71910346-71910347	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116331024	chr11:71910369-71910370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571860381	chr11:71910374-71910375	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527364915	chr11:71910384-71910385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139086156	chr11:71910389-71910390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74383603	chr11:71910415-71910416	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564233053	chr11:71910426-71910427	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563559130	chr11:71910447-71910448	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539194807	chr11:71910474-71910475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11235464	chr11:71910478-71910479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186914241	chr11:71910503-71910504	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557273965	chr11:71910537-71910538	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554931597	chr11:71910617-71910618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573294519	chr11:71910618-71910619	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540720719	chr11:71910661-71910662	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558737585	chr11:71910664-71910665	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576638465	chr11:71910674-71910675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543970640	chr11:71910758-71910759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs66484462	chr11:71910784-71910785	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs184334438	chr11:71910816-71910817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541495535	chr11:71910870-71910871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560084277	chr11:71910881-71910882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117893789	chr11:71910897-71910898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552258207	chr11:71910905-71910906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373586133	chr11:71910931-71910932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35030411	chr11:71910932-71910933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149542601	chr11:71910974-71910975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146212719	chr11:71910975-71910976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567801616	chr11:71910976-71910977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189808032	chr11:71910991-71910992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532775035	chr11:71911047-71911048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559686970	chr11:71911052-71911053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551170936	chr11:71911063-71911064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569603927	chr11:71911065-71911066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192918628	chr11:71911123-71911124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185090581	chr11:71911176-71911177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190477287	chr11:71911234-71911235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533904301	chr11:71911277-71911278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181777950	chr11:71911358-71911359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57538528	chr11:71911359-71911360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576901034	chr11:71911393-71911394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55912327	chr11:71911397-71911398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369918257	chr11:71911400-71911401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141288580	chr11:71911423-71911424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555925938	chr11:71911444-71911445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186196835	chr11:71911476-71911477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150347061	chr11:71911513-71911514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	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
Chronic lymphocytic leukemia	22228453	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71906200-71912200	Enhancers	Placenta	Placenta
2	chr11:71907400-71911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:71909800-71910600	Enhancers	Hela-S3	cervix
4	chr11:71909800-71910600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:71909800-71911000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:71910000-71911000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:71910200-71910800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:71910400-71910800	Enhancers	HepG2	liver
9	chr11:71910600-71914000	Weak transcription	Hela-S3	cervix
10	chr11:71910600-71915200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:71911000-71914000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:71914000-71914200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:71914000-71914400	Enhancers	Hela-S3	cervix
14	chr11:71914000-71920800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:71914200-71914600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr11:71914400-71915800	Weak transcription	Hela-S3	cervix

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