Variant report

Variant	esv2762915
Chromosome Location	chr11:65575850-65580638
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65578671..65581535-chr11:65584408..65587256,5	K562	blood:
2	chr11:65574740..65577430-chr11:65598861..65600498,2	K562	blood:
3	chr11:65577404..65580770-chr11:65592566..65594874,3	K562	blood:
4	chr11:65580481..65582382-chr11:65594017..65596909,2	K562	blood:
5	chr11:65576308..65578705-chr11:65600271..65604336,3	MCF-7	breast:
6	chr11:65428875..65431768-chr11:65574527..65576097,2	K562	blood:
7	chr11:65580305..65583287-chr11:65625936..65628715,2	K562	blood:
8	chr11:65266414..65268602-chr11:65574457..65576954,2	K562	blood:
9	chr11:65574802..65576504-chr11:65658689..65661475,2	K562	blood:
10	chr11:65569981..65571499-chr11:65576060..65578225,2	MCF-7	breast:
11	chr11:65428811..65431041-chr11:65577334..65579546,2	MCF-7	breast:
12	chr11:65577536..65578347-chr11:65651892..65652850,3	MCF-7	breast:
13	chr11:65547070..65550326-chr11:65573343..65578492,6	MCF-7	breast:
14	chr11:65572431..65575992-chr11:65577073..65580211,5	MCF-7	breast:
15	chr11:65547646..65551396-chr11:65574848..65579381,6	K562	blood:
16	chr11:65553157..65555496-chr11:65576050..65577589,2	MCF-7	breast:
17	chr11:65483666..65485894-chr11:65578594..65581279,2	MCF-7	breast:
18	chr11:65574813..65576940-chr11:65582842..65584422,2	MCF-7	breast:
19	chr11:65575640..65578882-chr11:65620145..65623092,3	K562	blood:
20	chr11:65572404..65575326-chr11:65576083..65580070,3	K562	blood:
21	chr11:65577980..65580904-chr11:65655568..65657932,2	K562	blood:
22	chr11:65577781..65579327-chr11:65656860..65658905,2	K562	blood:
23	chr11:65547557..65548070-chr11:65577254..65577865,2	MCF-7	breast:
24	chr11:65478545..65480945-chr11:65580447..65582951,3	MCF-7	breast:
25	chr11:65574439..65575948-chr11:65625763..65628472,2	MCF-7	breast:
26	chr11:65478220..65481152-chr11:65579976..65581531,2	MCF-7	breast:
27	chr11:65572431..65575992-chr11:65577073..65580211,5	MCF-7	breast:
28	chr11:65576729..65577277-chr11:65585230..65585837,2	K562	blood:
29	chr11:65576758..65577851-chr11:65585380..65586370,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172500	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000172803	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000172818	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000175602	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:242 , 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	rs548709	chr11:65575850-65575851	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533043778	chr11:65575874-65575875	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs185802012	chr11:65575925-65575926	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs559983468	chr11:65575965-65575966	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs528819950	chr11:65576004-65576005	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs190358004	chr11:65576094-65576095	Weak transcription Enhancers Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs182957353	chr11:65576101-65576102	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs552712348	chr11:65576114-65576115	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs113362771	chr11:65576181-65576182	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs534630692	chr11:65576210-65576211	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs555808980	chr11:65576216-65576217	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs186829512	chr11:65576272-65576273	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs550548678	chr11:65576281-65576282	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs570641437	chr11:65576313-65576314	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs1204771	chr11:65576317-65576318	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577531711	chr11:65576347-65576348	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs191446681	chr11:65576353-65576354	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs572912510	chr11:65576373-65576374	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs141675922	chr11:65576377-65576378	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs372687785	chr11:65576381-65576382	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs555345611	chr11:65576409-65576410	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs575210372	chr11:65576435-65576436	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs535313022	chr11:65576454-65576455	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs544258118	chr11:65576463-65576464	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs35138525	chr11:65576470-65576471	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs113668947	chr11:65576474-65576475	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs540319623	chr11:65576482-65576483	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs58274052	chr11:65576500-65576501	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs10896049	chr11:65576578-65576579	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10791825	chr11:65576585-65576586	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147835050	chr11:65576628-65576629	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs531217051	chr11:65576698-65576699	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs550610159	chr11:65576707-65576708	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs35681108	chr11:65576714-65576715	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs570504986	chr11:65576741-65576742	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs533262560	chr11:65576742-65576743	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs34035873	chr11:65576760-65576761	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs4930320	chr11:65576788-65576789	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368305220	chr11:65576795-65576796	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs377150068	chr11:65576801-65576802	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs72924707	chr11:65576803-65576804	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111890194	chr11:65576812-65576813	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs555522081	chr11:65576857-65576858	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs182531096	chr11:65576928-65576929	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs148902411	chr11:65576935-65576936	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs557826211	chr11:65576941-65576942	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs112617391	chr11:65576951-65576952	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs540330075	chr11:65576953-65576954	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs143605548	chr11:65577014-65577015	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs573667864	chr11:65577068-65577069	Weak transcription Genic enhancers	Chromatin interactive region	5 gene(s)	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65563400-65576200	Weak transcription	Pancreas	Pancrea
2	chr11:65565600-65577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:65572000-65577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65573800-65577800	Weak transcription	Right Ventricle	heart
5	chr11:65574600-65581400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:65575000-65580000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:65575400-65583800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:65575600-65576800	Enhancers	Esophagus	oesophagus
9	chr11:65575800-65576200	Active TSS	Spleen	Spleen
10	chr11:65575800-65577000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:65576200-65576400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:65576200-65576400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
13	chr11:65576200-65576400	ZNF genes & repeats	Spleen	Spleen
14	chr11:65576200-65576800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:65576200-65576800	Enhancers	Pancreas	Pancrea
16	chr11:65576400-65576800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:65576400-65577600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
19	chr11:65576800-65577800	Weak transcription	Esophagus	oesophagus
20	chr11:65576800-65577800	Weak transcription	Pancreas	Pancrea
21	chr11:65577000-65577400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:65577400-65577600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:65577400-65578600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:65577400-65578600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr11:65577400-65581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:65577600-65577800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:65577600-65578800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr11:65577600-65579600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:65577800-65578000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:65577800-65578000	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr11:65577800-65578000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr11:65577800-65578000	Enhancers	Fetal Heart	heart
33	chr11:65577800-65578000	Enhancers	Left Ventricle	heart
34	chr11:65577800-65578000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
35	chr11:65577800-65578200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:65577800-65578200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:65577800-65578200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:65577800-65578200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:65577800-65578200	Enhancers	Esophagus	oesophagus
40	chr11:65577800-65578200	Enhancers	Gastric	stomach
41	chr11:65577800-65578200	Enhancers	Pancreas	Pancrea
42	chr11:65577800-65578200	Enhancers	Right Ventricle	heart
43	chr11:65577800-65583200	Enhancers	Adipose Nuclei	Adipose
44	chr11:65577800-65584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:65578000-65578800	Enhancers	Lung	lung
46	chr11:65578000-65582200	Weak transcription	Left Ventricle	heart
47	chr11:65578000-65584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:65578200-65579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:65578200-65581600	Weak transcription	Pancreas	Pancrea
50	chr11:65578200-65582400	Weak transcription	Esophagus	oesophagus

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