Variant report

Variant	esv3401789
Chromosome Location	chr11:71111904-71116202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71100930..71102789-chr11:71115222..71118166,2	MCF-7	breast:
2	chr11:71111891..71114927-chr11:71116804..71119287,3	K562	blood:
3	chr11:71113585..71115621-chr11:71119782..71121639,2	K562	blood:

Variant related genes	Relation type
ENSG00000172900	chromatin interactions

Extended variants
information (count: 244 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:244 , 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	rs115237727	chr11:71111940-71111941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs118100374	chr11:71111980-71111981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs36037728	chr11:71111987-71111988	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560077248	chr11:71112018-71112019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573315765	chr11:71112048-71112049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77937194	chr11:71112053-71112054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140370419	chr11:71112054-71112055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113966117	chr11:71112075-71112076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73524624	chr11:71112081-71112082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563221472	chr11:71112104-71112105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192697781	chr11:71112176-71112177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548797727	chr11:71112177-71112178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566926519	chr11:71112179-71112180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371261592	chr11:71112234-71112235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534372111	chr11:71112261-71112262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551868426	chr11:71112295-71112296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570169790	chr11:71112305-71112306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150379310	chr11:71112346-71112347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs577842143	chr11:71112374-71112375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77336153	chr11:71112390-71112391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574713055	chr11:71112406-71112407	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183815887	chr11:71112431-71112432	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs34052659	chr11:71112440-71112441	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554006615	chr11:71112451-71112452	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572162758	chr11:71112473-71112474	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs58598732	chr11:71112521-71112522	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs60920251	chr11:71112523-71112524	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545981055	chr11:71112536-71112537	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557586145	chr11:71112557-71112558	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565383521	chr11:71112559-71112560	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577411195	chr11:71112582-71112583	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544657020	chr11:71112610-71112611	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562723827	chr11:71112650-71112651	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530449017	chr11:71112661-71112662	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373934814	chr11:71112684-71112685	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548622896	chr11:71112686-71112687	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1792328	chr11:71112721-71112722	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188585666	chr11:71112762-71112763	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1792327	chr11:71112784-71112785	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs570253708	chr11:71112787-71112788	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1792326	chr11:71112818-71112819	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116270271	chr11:71112825-71112826	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573670556	chr11:71112895-71112896	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544552624	chr11:71112907-71112908	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs57955238	chr11:71112952-71112953	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372027672	chr11:71113082-71113083	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535397785	chr11:71113096-71113097	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111613208	chr11:71113127-71113128	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562751091	chr11:71113154-71113155	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565922052	chr11:71113160-71113161	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	21785460	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71102800-71114000	Weak transcription	Pancreas	Pancrea
2	chr11:71110600-71113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:71112400-71113200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:71113400-71114400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:71113800-71114400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:71113800-71114400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:71114000-71114200	ZNF genes & repeats	Gastric	stomach
8	chr11:71114000-71114200	ZNF genes & repeats	Pancreas	Pancrea
9	chr11:71114000-71114200	Bivalent Enhancer	Right Ventricle	heart
10	chr11:71114200-71114400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:71114400-71118800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:71115600-71116000	Enhancers	GM12878-XiMat	blood

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