Variant report

Variant	esv1809358
Chromosome Location	chr11:65916558-65935189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:65922458-65922610	HepG2	liver:	n/a	n/a
2	BATF	chr11:65924672-65925025	GM12878	blood:	n/a	chr11:65924808-65924819
3	CBX3	chr11:65924674-65925078	K562	blood:	n/a	n/a
4	CTCF	chr11:65924760-65924910	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:65924840-65924990	A549	lung:	n/a	n/a
6	CTCF	chr11:65924840-65924990	GM12873	blood:	n/a	n/a
7	CTCF	chr11:65924800-65924950	AG04449	skin:	n/a	n/a
8	CTCF	chr11:65924840-65924990	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr11:65924740-65924890	GM12865	blood:	n/a	n/a
10	CTCF	chr11:65924760-65924910	GM12864	blood:	n/a	n/a
11	CTCF	chr11:65924780-65924930	GM12872	blood:	n/a	n/a
12	CTCF	chr11:65924820-65924970	A549	lung:	n/a	n/a
13	CTCF	chr11:65924820-65924970	HMF	breast:	n/a	n/a
14	CTCF	chr11:65924800-65924950	AG04450	lung:	n/a	n/a
15	CTCF	chr11:65924820-65924970	GM12872	blood:	n/a	n/a
16	CTCF	chr11:65929960-65930110	Caco-2	colon:	n/a	n/a
17	CTCF	chr11:65924720-65924870	GM06990	blood:	n/a	n/a
18	CTCF	chr11:65924820-65924970	GM12865	blood:	n/a	n/a
19	CTCF	chr11:65924780-65924930	GM12871	blood:	n/a	n/a
20	CTCF	chr11:65924780-65924930	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr11:65924840-65924990	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr11:65924780-65924930	BJ	skin:	n/a	n/a
23	CTCF	chr11:65924780-65924930	GM12867	blood:	n/a	n/a
24	CTCF	chr11:65924856-65924916	GM12878	blood:	n/a	n/a
25	CTCF	chr11:65924791-65924966	K562	blood:	n/a	n/a
26	CTCF	chr11:65924820-65924970	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr11:65924840-65924990	GM12872	blood:	n/a	n/a
28	CTCF	chr11:65924860-65925010	GM12864	blood:	n/a	n/a
29	CTCF	chr11:65924760-65924910	AG04450	lung:	n/a	n/a
30	CTCF	chr11:65924820-65924970	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr11:65924740-65924890	GM12873	blood:	n/a	n/a
32	CTCF	chr11:65924812-65924961	K562	blood:	n/a	n/a
33	CTCF	chr11:65924780-65924930	GM12875	blood:	n/a	n/a
34	CTCF	chr11:65933858-65933913	Fibrobl	skin:	n/a	n/a
35	CTCF	chr11:65924840-65925130	GM12874	blood:	n/a	n/a
36	CTCF	chr11:65924920-65925070	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:65924720-65924870	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr11:65924760-65924910	GM12867	blood:	n/a	n/a
39	CTCF	chr11:65924780-65924930	AG04449	skin:	n/a	n/a
40	CTCF	chr11:65924800-65924950	HAc	cerebellar:	n/a	n/a
41	CTCF	chr11:65924840-65924990	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr11:65924843-65924922	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:65924840-65924990	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:65924819-65924956	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:65924800-65924950	GM12873	blood:	n/a	n/a
46	CTCF	chr11:65924780-65924930	AG10803	skin:	n/a	n/a
47	CTCF	chr11:65924880-65925030	HVMF	connective:	n/a	n/a
48	CTCF	chr11:65933880-65934030	AG09309	skin:	n/a	n/a
49	CTCF	chr11:65924760-65924910	GM12869	blood:	n/a	n/a
50	CTCF	chr11:65924760-65924910	GM12870	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65836198..65839140-chr11:65932253..65934463,3	K562	blood:
2	chr11:65921627..65923245-chr11:65927449..65930072,2	MCF-7	breast:
3	chr11:65932311..65934818-chr11:65935989..65937985,2	K562	blood:
4	chr11:65926038..65926981-chr11:65989878..65990425,2	MCF-7	breast:
5	chr11:65902080..65904431-chr11:65921918..65923444,2	MCF-7	breast:
6	chr11:65919284..65922014-chr11:65923374..65926941,3	K562	blood:
7	chr11:65836348..65838040-chr11:65924767..65927169,2	MCF-7	breast:
8	chr11:65921627..65923245-chr11:65927449..65930072,2	MCF-7	breast:
9	chr11:65911758..65913479-chr11:65914461..65916927,2	MCF-7	breast:
10	chr11:65818157..65820412-chr11:65929090..65931469,2	K562	blood:
11	chr11:65910186..65911941-chr11:65921532..65923148,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLC2-2	chr11:65933321-65935022	l_501_chr11:65933320-65934902_prostate

No data

Variant related genes	Relation type
ENSG00000238763	TF binding region
ENSG00000238763	chromatin interactions
ENSG00000087365	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000255038	chromatin interactions

Extended variants
information (count: 560 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2452687	chr11:65916558-65916559	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10717909	chr11:65916570-65916571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546029476	chr11:65916585-65916586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559691406	chr11:65916615-65916616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374364159	chr11:65916712-65916713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184267623	chr11:65916716-65916717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376962843	chr11:65916764-65916765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7931477	chr11:65916768-65916769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs373660816	chr11:65916791-65916792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560983	chr11:65916806-65916807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370375788	chr11:65916815-65916816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550757996	chr11:65916867-65916868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115791873	chr11:65916919-65916920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148259238	chr11:65916972-65916973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539514483	chr11:65917003-65917004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7931544	chr11:65917034-65917035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs801741	chr11:65917084-65917085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs57522847	chr11:65917150-65917151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67772803	chr11:65917151-65917152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34542470	chr11:65917153-65917154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35439465	chr11:65917154-65917155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571898238	chr11:65917175-65917176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535470737	chr11:65917229-65917230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189265393	chr11:65917242-65917243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528437858	chr11:65917254-65917255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575221181	chr11:65917268-65917269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202166074	chr11:65917277-65917278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182253117	chr11:65917314-65917315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374827576	chr11:65917321-65917322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557529868	chr11:65917356-65917357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551668108	chr11:65917361-65917362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577406461	chr11:65917374-65917375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187320494	chr11:65917392-65917393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555373	chr11:65917458-65917459	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572877221	chr11:65917467-65917468	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112715791	chr11:65917469-65917470	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs488320	chr11:65917472-65917473	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189059333	chr11:65917518-65917519	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550645501	chr11:65917547-65917548	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs145078537	chr11:65917580-65917581	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs533012466	chr11:65917598-65917599	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147583992	chr11:65917642-65917643	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202052086	chr11:65917715-65917716	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs535406721	chr11:65917718-65917719	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369354370	chr11:65917719-65917720	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567428641	chr11:65917720-65917721	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77912552	chr11:65917787-65917788	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549002993	chr11:65917799-65917800	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568919931	chr11:65917907-65917908	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536356258	chr11:65917941-65917942	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65895000-65917600	Weak transcription	HSMM	muscle
2	chr11:65901000-65919400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:65905200-65947000	Weak transcription	Fetal Lung	lung
4	chr11:65905400-65939600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:65905800-65924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:65905800-65952800	Weak transcription	Fetal Stomach	stomach
7	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:65910000-65939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:65910400-65918600	Weak transcription	HSMMtube	muscle
10	chr11:65910400-65927000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65910600-65917400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:65910600-65939600	Weak transcription	NHDF-Ad	bronchial
13	chr11:65910800-65917400	Weak transcription	NHLF	lung
14	chr11:65910800-65917600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:65911000-65918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:65911000-65924400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:65911000-65924400	Weak transcription	NHEK	skin
18	chr11:65911000-65924600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:65911000-65939400	Weak transcription	NH-A	brain
20	chr11:65911000-65943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:65911800-65916600	Weak transcription	K562	blood
22	chr11:65912800-65917600	Weak transcription	Primary B cells from cord blood	blood
23	chr11:65912800-65924400	Weak transcription	A549	lung
24	chr11:65913000-65918800	Weak transcription	Small Intestine	intestine
25	chr11:65913200-65918400	Weak transcription	Right Atrium	heart
26	chr11:65913200-65918800	Weak transcription	Left Ventricle	heart
27	chr11:65913200-65927000	Weak transcription	Right Ventricle	heart
28	chr11:65913200-65927200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:65913400-65917000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:65913400-65924400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:65913400-65924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:65913400-65929800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:65913400-65951000	Weak transcription	Spleen	Spleen
34	chr11:65913800-65916800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:65913800-65917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:65914000-65924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:65914200-65917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:65914200-65939600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:65914400-65919800	Weak transcription	Primary T cells from cord blood	blood
40	chr11:65914600-65916600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:65914600-65917200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:65914600-65918200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr11:65914600-65918800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:65914600-65919800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:65914600-65929600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:65914800-65927000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:65915800-65917800	Enhancers	GM12878-XiMat	blood
48	chr11:65916600-65917600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:65916800-65917400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:65916800-65917800	Enhancers	Primary T helper cells fromperipheralblood	blood

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