Variant report

Variant	esv3331673
Chromosome Location	chr11:75876173-75876517
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	chr11:75874099..75876373-chr11:75881253..75883763,2	MCF-7	breast:
2	chr11:75871119..75872885-chr11:75874380..75876840,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67259330	chr11:75876173-75876174	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375997897	chr11:75876182-75876183	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530264250	chr11:75876185-75876186	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138411739	chr11:75876195-75876196	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560479799	chr11:75876210-75876211	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142962349	chr11:75876211-75876212	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551623778	chr11:75876222-75876223	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571476914	chr11:75876230-75876231	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537237296	chr11:75876231-75876232	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550403268	chr11:75876242-75876243	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567022403	chr11:75876256-75876257	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192015629	chr11:75876260-75876261	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552661065	chr11:75876261-75876262	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561731685	chr11:75876286-75876287	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79272155	chr11:75876310-75876311	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368797644	chr11:75876320-75876321	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184445204	chr11:75876346-75876347	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113026202	chr11:75876355-75876356	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188543450	chr11:75876356-75876357	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368565985	chr11:75876358-75876359	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575887697	chr11:75876387-75876388	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544787969	chr11:75876406-75876407	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561419476	chr11:75876442-75876443	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575093159	chr11:75876444-75876445	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534717870	chr11:75876445-75876446	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184026807	chr11:75876447-75876448	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367962352	chr11:75876470-75876471	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565832634	chr11:75876474-75876475	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189277515	chr11:75876506-75876507	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75873600-75882200	Weak transcription	Right Atrium	heart
2	chr11:75873800-75876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:75873800-75881600	Weak transcription	Pancreas	Pancrea
4	chr11:75874800-75878600	Weak transcription	Adipose Nuclei	Adipose
5	chr11:75876000-75876400	Weak transcription	Esophagus	oesophagus
6	chr11:75876000-75876600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:75876000-75876600	Enhancers	Spleen	Spleen
8	chr11:75876200-75876400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:75876400-75876600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr11:75876400-75876600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:75876400-75876600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:75876400-75876600	ZNF genes & repeats	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links