Variant report

Variant	esv3478685
Chromosome Location	chr11:71113848-71114327
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	chr11:71111891..71114927-chr11:71116804..71119287,3	K562	blood:
2	chr11:71113585..71115621-chr11:71119782..71121639,2	K562	blood:

Variant related genes	Relation type
ENSG00000172900	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531800178	chr11:71113865-71113866	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12271996	chr11:71113872-71113873	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs118024468	chr11:71113874-71113875	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138757355	chr11:71113909-71113910	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547108998	chr11:71113922-71113923	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60503372	chr11:71113942-71113943	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1792324	chr11:71113955-71113956	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61248798	chr11:71113956-71113957	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569925222	chr11:71113958-71113959	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536855189	chr11:71113966-71113967	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538858713	chr11:71113970-71113971	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113103001	chr11:71113973-71113974	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386754795	chr11:71113979-71113980	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370463208	chr11:71113986-71113987	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373621109	chr11:71113993-71113994	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535923370	chr11:71114028-71114029	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553947880	chr11:71114038-71114039	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376667426	chr11:71114039-71114040	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561121088	chr11:71114041-71114042	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373494137	chr11:71114043-71114044	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs530249401	chr11:71114044-71114045	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546853702	chr11:71114048-71114049	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4944884	chr11:71114062-71114063	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190302611	chr11:71114063-71114064	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72961145	chr11:71114072-71114073	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4944885	chr11:71114075-71114076	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs558035890	chr11:71114076-71114077	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112521480	chr11:71114087-71114088	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576327378	chr11:71114128-71114129	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543700773	chr11:71114132-71114133	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2511011	chr11:71114134-71114135	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573681140	chr11:71114162-71114163	ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541139899	chr11:71114203-71114204	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369731750	chr11:71114210-71114211	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555154025	chr11:71114219-71114220	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532966502	chr11:71114220-71114221	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76909142	chr11:71114250-71114251	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2511280	chr11:71114292-71114293	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551881012	chr11:71114311-71114312	ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530822773	chr11:71114326-71114327	ZNF genes & repeats Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71102800-71114000	Weak transcription	Pancreas	Pancrea
2	chr11:71113400-71114400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:71113800-71114400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:71113800-71114400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:71114000-71114200	ZNF genes & repeats	Gastric	stomach
6	chr11:71114000-71114200	ZNF genes & repeats	Pancreas	Pancrea
7	chr11:71114000-71114200	Bivalent Enhancer	Right Ventricle	heart
8	chr11:71114200-71114400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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