Variant report

Variant	nsv825943
Chromosome Location	chr11:63965453-63967699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:63966289-63966297	K562	blood:	n/a	n/a
2	EBF1	chr11:63967513-63967741	GM12878	blood:	n/a	chr11:63967632-63967643
3	POLR2A	chr11:63967479-63967690	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:63965448-63966118	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:63967251-63967620	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:63966823-63966943	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:63966703-63966721	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:63966579-63966621	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:63967472-63967475	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:63966141-63966157	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:63967048-63967159	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:63967258-63967970	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr11:63967607-63968220	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr11:63965957-63966127	K562	blood:	n/a	n/a
15	POLR2A	chr11:63966160-63966180	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:63967443-63968732	K562	blood:	n/a	n/a
17	POLR2A	chr11:63967696-63968369	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr11:63964637-63965587	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:63966536-63966540	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:63965602-63965769	K562	blood:	n/a	n/a
21	REST	chr11:63967032-63967167	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr11:63966010-63966409	GM12878	blood:	n/a	n/a
23	RXRA	chr11:63967029-63967185	HepG2	liver:	n/a	n/a
24	YY1	chr11:63967675-63967884	GM12878	blood:	n/a	chr11:63967775-63967789
25	YY1	chr11:63967694-63967852	K562	blood:	n/a	chr11:63967775-63967789

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63962555..63965577-chr11:63969576..63973064,3	MCF-7	breast:
2	chr11:63962304..63965510-chr11:64012798..64015195,3	MCF-7	breast:
3	chr11:63932754..63935809-chr11:63963316..63968184,5	MCF-7	breast:
4	chr11:63951087..63956474-chr11:63963164..63967847,7	MCF-7	breast:

No data

Variant related genes	Relation type
STIP1	TF binding region
ENSG00000133315	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000256940	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202052425	chr11:63965460-63965461	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs192039267	chr11:63965468-63965469	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs563316397	chr11:63965470-63965471	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs376884858	chr11:63965491-63965492	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs552256023	chr11:63965492-63965493	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs371537786	chr11:63965494-63965495	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs376361743	chr11:63965515-63965516	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs35235491	chr11:63965534-63965535	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs565637807	chr11:63965557-63965558	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs151236602	chr11:63965606-63965607	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs575844646	chr11:63965659-63965660	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs548148681	chr11:63965675-63965676	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568043072	chr11:63965684-63965685	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375099788	chr11:63965693-63965694	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs537940420	chr11:63965695-63965696	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536972050	chr11:63965706-63965707	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs568871737	chr11:63965711-63965712	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs556943295	chr11:63965719-63965720	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs77261827	chr11:63965740-63965741	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs12802950	chr11:63965771-63965772	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs368629558	chr11:63965792-63965793	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs572438255	chr11:63965798-63965799	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs538577722	chr11:63965818-63965819	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs376582527	chr11:63965820-63965821	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs541678569	chr11:63965834-63965835	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs183485018	chr11:63965845-63965846	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs575056926	chr11:63965869-63965870	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs555310505	chr11:63965885-63965886	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544141245	chr11:63965886-63965887	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs150473812	chr11:63965943-63965944	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs7123004	chr11:63965948-63965949	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185912722	chr11:63965949-63965950	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559434755	chr11:63965962-63965963	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs573000234	chr11:63966000-63966001	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs547854668	chr11:63966019-63966020	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs190648665	chr11:63966027-63966028	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs374052981	chr11:63966061-63966062	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs567931390	chr11:63966070-63966071	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs536032683	chr11:63966106-63966107	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs550856321	chr11:63966204-63966205	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs570652428	chr11:63966210-63966211	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539063231	chr11:63966213-63966214	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs371481270	chr11:63966225-63966226	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs79536258	chr11:63966243-63966244	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540845132	chr11:63966288-63966289	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs112901524	chr11:63966298-63966299	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs535142324	chr11:63966305-63966306	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560368569	chr11:63966307-63966308	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs577297085	chr11:63966323-63966324	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs575093108	chr11:63966382-63966383	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 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
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63954600-63967400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63955000-63969400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:63955200-63971600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:63955200-63974400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:63955200-63975000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:63955200-63975200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:63955800-63971200	Strong transcription	Fetal Stomach	stomach
8	chr11:63955800-63975400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:63956000-63973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:63956200-63974200	Weak transcription	Right Atrium	heart
11	chr11:63956400-63970200	Weak transcription	Stomach Mucosa	stomach
12	chr11:63957000-63970600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:63957000-63971200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:63957000-63971400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:63957200-63965800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:63957400-63971000	Strong transcription	Dnd41	blood
17	chr11:63957400-63972000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:63957400-63974800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:63957400-63975800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:63957600-63970400	Strong transcription	Fetal Thymus	thymus
21	chr11:63958200-63971200	Strong transcription	Hela-S3	cervix
22	chr11:63959200-63972200	Strong transcription	Lung	lung
23	chr11:63959400-63966000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:63959400-63971600	Strong transcription	Placenta	Placenta
25	chr11:63959400-63972000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:63959400-63972000	Strong transcription	Thymus	Thymus
27	chr11:63959600-63966400	Strong transcription	Ovary	ovary
28	chr11:63959600-63966400	Strong transcription	HSMM	muscle
29	chr11:63959600-63971400	Strong transcription	A549	lung
30	chr11:63959600-63975000	Strong transcription	NHEK	skin
31	chr11:63959600-63976000	Strong transcription	Fetal Brain Female	brain
32	chr11:63959600-63977000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:63959800-63965800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:63959800-63966200	Strong transcription	K562	blood
35	chr11:63959800-63966400	Strong transcription	NHLF	lung
36	chr11:63959800-63967800	Strong transcription	Liver	Liver
37	chr11:63959800-63971000	Strong transcription	GM12878-XiMat	blood
38	chr11:63959800-63971600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:63959800-63971600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:63959800-63971600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr11:63959800-63971600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:63959800-63971800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:63959800-63971800	Strong transcription	Primary T cells from cord blood	blood
44	chr11:63959800-63971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:63959800-63971800	Strong transcription	Adipose Nuclei	Adipose
46	chr11:63959800-63971800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:63959800-63971800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:63959800-63971800	Strong transcription	Osteobl	bone
49	chr11:63959800-63973400	Strong transcription	Right Ventricle	heart
50	chr11:63959800-63976000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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