Variant report

Variant	esv10330
Chromosome Location	chr11:65573764-65580076
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:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFL1-1	chr11:65574367-65574984	XLOC_009475

No data

Variant related genes	Relation type
ENSG00000175827	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000172803	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000173039	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000172818	chromatin interactions
KIAA1715	miRNA target sites

Extended variants
information (count: 303 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548224727	chr11:65573784-65573785	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs76048416	chr11:65573814-65573815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536823252	chr11:65573828-65573829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35001456	chr11:65573864-65573865	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs577443701	chr11:65573878-65573879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556465913	chr11:65573905-65573906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570356782	chr11:65573909-65573910	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs539338469	chr11:65573931-65573932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs528365555	chr11:65573935-65573936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559034332	chr11:65573940-65573941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374798554	chr11:65573944-65573945	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142118029	chr11:65574012-65574013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115875620	chr11:65574041-65574042	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs71471990	chr11:65574079-65574080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs60678003	chr11:65574081-65574082	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs71036242	chr11:65574087-65574088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574561514	chr11:65574124-65574125	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs543634643	chr11:65574129-65574130	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372409489	chr11:65574130-65574131	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563314316	chr11:65574149-65574150	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563112423	chr11:65574189-65574190	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143969947	chr11:65574192-65574193	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs202153293	chr11:65574193-65574194	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs545680528	chr11:65574229-65574230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185147277	chr11:65574276-65574277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528052098	chr11:65574286-65574287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189189338	chr11:65574314-65574315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568184016	chr11:65574317-65574318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530501750	chr11:65574318-65574319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74827329	chr11:65574360-65574361	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34685682	chr11:65574361-65574362	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201255510	chr11:65574381-65574382	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs372591745	chr11:65574383-65574384	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs368759490	chr11:65574399-65574400	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs146373971	chr11:65574439-65574440	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs570254084	chr11:65574504-65574505	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs202224133	chr11:65574519-65574520	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs373137329	chr11:65574528-65574529	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs541924594	chr11:65574531-65574532	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs12575663	chr11:65574535-65574536	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79389646	chr11:65574588-65574589	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs527722342	chr11:65574591-65574592	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
43	rs374668710	chr11:65574601-65574602	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
44	rs566101344	chr11:65574660-65574661	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
45	rs139752358	chr11:65574700-65574701	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs181208144	chr11:65574764-65574765	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
47	rs554649186	chr11:65574781-65574782	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
48	rs547373071	chr11:65574782-65574783	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
49	rs533216988	chr11:65574785-65574786	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
50	rs76842710	chr11:65574846-65574847	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	6 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:100 , 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	chr11:65571600-65575600	Weak transcription	Esophagus	oesophagus
4	chr11:65572000-65574600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:65572000-65577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:65573800-65577800	Weak transcription	Right Ventricle	heart
7	chr11:65574400-65574600	Enhancers	Fetal Intestine Small	intestine
8	chr11:65574400-65574800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:65574400-65575000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:65574600-65575000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:65574600-65575000	Enhancers	K562	blood
12	chr11:65574600-65581400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:65575000-65575200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:65575000-65580000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:65575200-65575600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:65575400-65583800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:65575600-65575800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:65575600-65576800	Enhancers	Esophagus	oesophagus
19	chr11:65575800-65576200	Active TSS	Spleen	Spleen
20	chr11:65575800-65577000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:65576200-65576400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:65576200-65576400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
23	chr11:65576200-65576400	ZNF genes & repeats	Spleen	Spleen
24	chr11:65576200-65576800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:65576200-65576800	Enhancers	Pancreas	Pancrea
26	chr11:65576400-65576800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:65576400-65577600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:65576400-65586000	Weak transcription	Spleen	Spleen
29	chr11:65576800-65577800	Weak transcription	Esophagus	oesophagus
30	chr11:65576800-65577800	Weak transcription	Pancreas	Pancrea
31	chr11:65577000-65577400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:65577400-65577600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:65577400-65578600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:65577400-65578600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr11:65577400-65581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:65577600-65577800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:65577600-65578800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr11:65577600-65579600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:65577800-65578000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:65577800-65578000	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr11:65577800-65578000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr11:65577800-65578000	Enhancers	Fetal Heart	heart
43	chr11:65577800-65578000	Enhancers	Left Ventricle	heart
44	chr11:65577800-65578000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
45	chr11:65577800-65578200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:65577800-65578200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65577800-65578200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:65577800-65578200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:65577800-65578200	Enhancers	Esophagus	oesophagus
50	chr11:65577800-65578200	Enhancers	Gastric	stomach

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