Variant report

Variant	esv3389596
Chromosome Location	chr11:65507376-65510174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65509973-65510077	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65479344..65482613-chr11:65506130..65509163,3	K562	blood:
2	chr11:65508777..65511701-chr11:65625140..65626747,2	MCF-7	breast:
3	chr11:65507614..65509746-chr11:65624233..65626717,2	K562	blood:
4	chr11:65481113..65483884-chr11:65507663..65510016,2	K562	blood:
5	chr11:65477043..65480917-chr11:65508672..65511381,3	MCF-7	breast:
6	chr11:65507408..65509885-chr11:65553475..65556094,2	MCF-7	breast:
7	chr11:65509847..65512521-chr11:65541079..65543934,2	K562	blood:
8	chr11:65508695..65511331-chr11:65535308..65536839,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255557	TF binding region
ENSG00000172757	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000172732	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376808841	chr11:65507467-65507468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535206496	chr11:65507471-65507472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548620290	chr11:65507487-65507488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568608360	chr11:65507520-65507521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562279019	chr11:65507565-65507566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12788241	chr11:65507567-65507568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368840366	chr11:65507569-65507570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs12788724	chr11:65507581-65507582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557117809	chr11:65507596-65507597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs603509	chr11:65507605-65507606	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs150940216	chr11:65507615-65507616	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs191643336	chr11:65507648-65507649	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs374652999	chr11:65507655-65507656	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs182633501	chr11:65507678-65507679	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs562203486	chr11:65507680-65507681	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs575791158	chr11:65507689-65507690	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544444464	chr11:65507703-65507704	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs145905278	chr11:65507708-65507709	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs147916901	chr11:65507714-65507715	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs11227287	chr11:65507741-65507742	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559895071	chr11:65507901-65507902	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537800457	chr11:65507963-65507964	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs548561801	chr11:65507969-65507970	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs562322079	chr11:65507976-65507977	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs561737917	chr11:65507984-65507985	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs367710772	chr11:65507992-65507993	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs187549661	chr11:65508070-65508071	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs192595804	chr11:65508096-65508097	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs371228610	chr11:65508100-65508101	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs531375437	chr11:65508111-65508112	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs115915076	chr11:65508140-65508141	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs184440682	chr11:65508152-65508153	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs190453927	chr11:65508153-65508154	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs11606947	chr11:65508237-65508238	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573457385	chr11:65508247-65508248	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs559060729	chr11:65508268-65508269	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs561406639	chr11:65508285-65508286	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs535884556	chr11:65508291-65508292	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs555775219	chr11:65508351-65508352	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs529146307	chr11:65508484-65508485	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs544679700	chr11:65508505-65508506	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs564282484	chr11:65508597-65508598	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs577719579	chr11:65508701-65508702	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs147104859	chr11:65508740-65508741	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs138340278	chr11:65508742-65508743	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs527327456	chr11:65508754-65508755	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs560436662	chr11:65508756-65508757	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs192555346	chr11:65508770-65508771	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs115361372	chr11:65508774-65508775	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs75970252	chr11:65508784-65508785	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65495400-65511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:65506800-65507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:65507800-65511600	Weak transcription	Spleen	Spleen
4	chr11:65508200-65508400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:65508400-65509000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:65508600-65509000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:65509000-65511400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:65509400-65511200	Enhancers	Placenta	Placenta
9	chr11:65509800-65510600	Enhancers	Liver	Liver
10	chr11:65510000-65510400	Enhancers	Fetal Lung	lung
11	chr11:65510000-65510600	Enhancers	Hela-S3	cervix

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