Variant report

Variant	nsv528976
Chromosome Location	chr11:67224988-67227006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr11:67226870-67226931	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67226097-67226206	MCF10A-Er-Src	breast:	n/a	n/a
3	RUNX3	chr11:67226872-67227730	GM12878	blood:	n/a	n/a
4	ZNF384	chr11:67226888-67226889	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67225937-67225987	HL-60	blood:	n/a
2	chr11:67225937-67225987	IMR90	lung:	fetal
3	chr11:67226161-67226211	GM12891	blood:	n/a
4	chr11:67225897-67225947	H1-hESC	embryonic stem cell:	embryo
5	chr11:67225937-67225987	HepG2	liver:	n/a
6	chr11:67225897-67225947	A549	lung:	n/a
7	chr11:67226161-67226211	PANC-1	pancreas:	n/a
8	chr11:67225937-67225987	H1-hESC	embryonic stem cell:	embryo
9	chr11:67226161-67226211	HRCEpiC	kidney:	n/a
10	chr11:67225897-67225947	SK-N-SH_RA	brain:	n/a
11	chr11:67225937-67225987	HEEpiC	esophagus:	n/a
12	chr11:67225897-67225947	HCF	heart:	n/a
13	chr11:67225937-67225987	SAEC	small airway:	n/a
14	chr11:67226161-67226211	Caco-2	colon:	n/a
15	chr11:67225937-67225987	Hela-S3	cervix:	n/a
16	chr11:67225937-67225987	RPTEC	kidney:	n/a
17	chr11:67225897-67225947	BJ	skin:	n/a
18	chr11:67225897-67225947	RPTEC	kidney:	n/a
19	chr11:67225937-67225987	BJ	skin:	n/a
20	chr11:67225937-67225987	HAEpiC	amniotic membrane:	n/a
21	chr11:67225897-67225947	ovcar-3	ovarian:	n/a
22	chr11:67225937-67225987	AG04450	lung:	fetal
23	chr11:67226161-67226211	Hela-S3	cervix:	n/a
24	chr11:67226161-67226211	ECC-1	luminal epithelium:	n/a
25	chr11:67226161-67226211	Hepatocyte	liver:	n/a
26	chr11:67225897-67225947	SKMC	muscle:	n/a
27	chr11:67225937-67225987	HUVEC	blood vessel:	n/a
28	chr11:67226161-67226211	BE2_C	brain:	n/a
29	chr11:67226161-67226211	HEEpiC	esophagus:	n/a
30	chr11:67226161-67226211	SAEC	small airway:	n/a
31	chr11:67225937-67225987	GM12891	blood:	n/a
32	chr11:67226161-67226211	U87	brain:	n/a
33	chr11:67225937-67225987	LNCaP	prostate:	n/a
34	chr11:67225897-67225947	PANC-1	pancreas:	n/a
35	chr11:67225937-67225987	ovcar-3	ovarian:	n/a
36	chr11:67225897-67225947	HL-60	blood:	n/a
37	chr11:67225897-67225947	PrEC	prostate:	n/a
38	chr11:67225897-67225947	HEK293	kidney:	embryo
39	chr11:67226161-67226211	SK-N-MC	brain:	n/a
40	chr11:67225897-67225947	HNPCEpiC	eye:	n/a
41	chr11:67225937-67225987	HPAEpiC	pulmonary alveolar:	n/a
42	chr11:67226161-67226211	GM06990	blood:	n/a
43	chr11:67226161-67226211	IMR90	lung:	fetal
44	chr11:67225897-67225947	AG09319	gingival:	n/a
45	chr11:67225897-67225947	GM06990	blood:	n/a
46	chr11:67226161-67226211	HIPEpiC	eye:	n/a
47	chr11:67225937-67225987	HCF	heart:	n/a
48	chr11:67225937-67225987	SK-N-MC	brain:	n/a
49	chr11:67225937-67225987	GM06990	blood:	n/a
50	chr11:67226161-67226211	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:67219760..67221502-chr11:67222949..67225729,3	K562	blood:
2	chr11:67157021..67160587-chr11:67222667..67225674,3	MCF-7	breast:
3	chr11:67226396..67229007-chr11:67234982..67237548,2	K562	blood:
4	chr11:67225990..67228470-chr11:67230116..67233017,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269913	TF binding region
GPR152	TF binding region
ENSG00000269913	CpG island
GPR152	CpG island
ENSG00000175514	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000175544	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17501521	chr11:67224988-67224989	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541920527	chr11:67225006-67225007	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs146764702	chr11:67225049-67225050	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369700438	chr11:67225052-67225053	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139392451	chr11:67225081-67225082	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs142530984	chr11:67225100-67225101	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs150929930	chr11:67225107-67225108	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs140655456	chr11:67225110-67225111	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200515541	chr11:67225121-67225122	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552701854	chr11:67225128-67225129	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373263875	chr11:67225137-67225138	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs150115958	chr11:67225148-67225149	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377174577	chr11:67225158-67225159	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs199749736	chr11:67225168-67225169	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs201059902	chr11:67225181-67225182	Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550529214	chr11:67225201-67225202	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs111245375	chr11:67225251-67225252	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs369299359	chr11:67225252-67225253	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs140163874	chr11:67225266-67225267	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs549985965	chr11:67225300-67225301	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs1624189	chr11:67225304-67225305	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs554614531	chr11:67225311-67225312	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566528599	chr11:67225346-67225347	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs533671373	chr11:67225355-67225356	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs189259650	chr11:67225386-67225387	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs11227797	chr11:67225399-67225400	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147004056	chr11:67225456-67225457	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs561830046	chr11:67225467-67225468	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs538755569	chr11:67225483-67225484	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs181626050	chr11:67225586-67225587	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs529226214	chr11:67225621-67225622	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs574397750	chr11:67225654-67225655	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs186954794	chr11:67225661-67225662	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs371440030	chr11:67225686-67225687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527759334	chr11:67225687-67225688	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140897826	chr11:67225747-67225748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546010968	chr11:67225825-67225826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117175952	chr11:67225831-67225832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531851447	chr11:67225863-67225864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200848734	chr11:67225864-67225865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373308879	chr11:67225882-67225883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376226026	chr11:67225892-67225893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550153300	chr11:67225898-67225899	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs145493184	chr11:67225907-67225908	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs200006745	chr11:67225908-67225909	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs369587170	chr11:67225916-67225917	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs569810738	chr11:67225921-67225922	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs566372218	chr11:67225922-67225923	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs199516959	chr11:67225933-67225934	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs552024151	chr11:67225934-67225935	Weak transcription Enhancers	CpG island	1 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
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
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
Myelofibrosis	22110671	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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
2	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67212400-67226800	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:67215400-67227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:67215800-67230600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
7	chr11:67218600-67227000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:67219000-67231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67219200-67225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:67219800-67226800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:67220400-67231400	Weak transcription	Gastric	stomach
12	chr11:67220400-67231400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:67220400-67231400	Weak transcription	Right Ventricle	heart
14	chr11:67221400-67230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:67222000-67226000	Weak transcription	Spleen	Spleen
16	chr11:67222400-67227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:67223000-67227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:67223600-67231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:67224200-67226800	Enhancers	Primary B cells from cord blood	blood
20	chr11:67224400-67225200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:67224800-67226200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:67225800-67227200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:67226000-67226400	Genic enhancers	Spleen	Spleen
24	chr11:67226200-67226800	Enhancers	GM12878-XiMat	blood
25	chr11:67226200-67231000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:67226400-67230600	Weak transcription	Spleen	Spleen
27	chr11:67226800-67227200	Flanking Active TSS	GM12878-XiMat	blood
28	chr11:67226800-67227400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr11:67226800-67227600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:67226800-67228000	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr11:67226800-67228000	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:67227000-67227600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:67227000-67227600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:67227000-67228000	Enhancers	Primary monocytes fromperipheralblood	blood

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