Variant report

Variant	nsv975850
Chromosome Location	chr11:63458107-63462594
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63459148..63462925-chr11:63465631..63468720,3	K562	blood:
2	chr11:63455435..63460704-chr11:63461095..63464414,6	K562	blood:
3	chr11:63450989..63453241-chr11:63460723..63463208,2	K562	blood:
4	chr11:63436300..63439514-chr11:63456446..63459653,3	K562	blood:
5	chr11:63459746..63461440-chr11:63466054..63468987,2	K562	blood:
6	chr11:63456078..63458462-chr11:63468161..63469753,2	K562	blood:
7	chr11:63455435..63460704-chr11:63461095..63464414,6	K562	blood:
8	chr11:63450158..63452241-chr11:63456760..63459351,2	MCF-7	breast:
9	chr11:63460991..63463009-chr11:63467492..63470097,2	MCF-7	breast:
10	chr11:63448565..63450815-chr11:63457627..63460001,3	MCF-7	breast:
11	chr11:63447407..63449476-chr11:63459423..63460983,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271100	chromatin interactions
ENSG00000184743	chromatin interactions
ENSG00000133318	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553811820	chr11:63458135-63458136	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577088131	chr11:63458139-63458140	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534656723	chr11:63458152-63458153	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs58198493	chr11:63458153-63458154	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184596370	chr11:63458317-63458318	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537161566	chr11:63458347-63458348	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557466495	chr11:63458359-63458360	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs112686846	chr11:63458381-63458382	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189376416	chr11:63458391-63458392	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142803375	chr11:63458414-63458415	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562351480	chr11:63458445-63458446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573590103	chr11:63458458-63458459	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181385286	chr11:63458496-63458497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185171294	chr11:63458508-63458509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs575377640	chr11:63458548-63458549	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78696448	chr11:63458586-63458587	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs190414480	chr11:63458646-63458647	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369023803	chr11:63458695-63458696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532972957	chr11:63458753-63458754	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147155159	chr11:63458777-63458778	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576915	chr11:63458785-63458786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs151023807	chr11:63458885-63458886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs559966053	chr11:63458889-63458890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141109120	chr11:63458917-63458918	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548142428	chr11:63458921-63458922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568100267	chr11:63459047-63459048	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537482248	chr11:63459048-63459049	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576644591	chr11:63459070-63459071	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550795821	chr11:63459090-63459091	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570968764	chr11:63459102-63459103	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181229941	chr11:63459177-63459178	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs76013506	chr11:63459198-63459199	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs573550621	chr11:63459205-63459206	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145143817	chr11:63459225-63459226	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs79859844	chr11:63459231-63459232	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs575307228	chr11:63459233-63459234	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs375984651	chr11:63459249-63459250	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs571097811	chr11:63459266-63459267	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs186693012	chr11:63459346-63459347	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs563984918	chr11:63459404-63459405	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs60592459	chr11:63459439-63459440	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs577668089	chr11:63459465-63459466	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs369288887	chr11:63459474-63459475	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs527321175	chr11:63459490-63459491	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs559929358	chr11:63459507-63459508	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs540974144	chr11:63459556-63459557	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs146857917	chr11:63459574-63459575	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs547249532	chr11:63459596-63459597	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs562490974	chr11:63459669-63459670	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs530804914	chr11:63459733-63459734	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21785460	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63450400-63466400	Weak transcription	Small Intestine	intestine
2	chr11:63450600-63469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:63450800-63460400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:63450800-63465400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:63450800-63465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:63450800-63517400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:63451000-63466800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:63451000-63466800	Weak transcription	Stomach Mucosa	stomach
9	chr11:63451000-63467000	Weak transcription	Thymus	Thymus
10	chr11:63451200-63466400	Weak transcription	Fetal Intestine Large	intestine
11	chr11:63451200-63466800	Weak transcription	Fetal Kidney	kidney
12	chr11:63451200-63475000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:63451200-63478000	Weak transcription	HSMM	muscle
14	chr11:63451200-63486400	Weak transcription	Primary T cells from cord blood	blood
15	chr11:63451400-63466800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:63451400-63478000	Weak transcription	HSMMtube	muscle
17	chr11:63452000-63486400	Weak transcription	Fetal Thymus	thymus
18	chr11:63452600-63469000	Weak transcription	Left Ventricle	heart
19	chr11:63452800-63459400	Weak transcription	Fetal Stomach	stomach
20	chr11:63452800-63465400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:63452800-63466800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:63452800-63466800	Weak transcription	Lung	lung
23	chr11:63452800-63469000	Weak transcription	Fetal Intestine Small	intestine
24	chr11:63453000-63459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:63453000-63472800	Weak transcription	Pancreas	Pancrea
26	chr11:63453200-63466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:63453400-63467000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:63453400-63471800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:63453600-63467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:63453600-63467200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:63454200-63458400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:63454200-63459200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:63454400-63464000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:63454400-63465200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:63454400-63466400	Weak transcription	Psoas Muscle	Psoas
36	chr11:63454400-63466400	Weak transcription	Right Atrium	heart
37	chr11:63454600-63466800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:63454800-63467000	Weak transcription	Liver	Liver
39	chr11:63454800-63476600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:63455000-63466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:63455000-63466600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr11:63455200-63466800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:63455400-63467200	Weak transcription	Brain Germinal Matrix	brain
44	chr11:63455600-63458800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:63455600-63459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:63455600-63462600	Weak transcription	GM12878-XiMat	blood
47	chr11:63455600-63465800	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:63455600-63466200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:63455600-63466800	Weak transcription	NHDF-Ad	bronchial
50	chr11:63455600-63467000	Weak transcription	H1 Cell Line	embryonic stem cell

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