Variant report

Variant	esv3406283
Chromosome Location	chr11:73805531-73806190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:73805576-73805686	LNCaP	prostate:	n/a	n/a
2	CTCF	chr11:73805521-73805753	MCF-7	breast:	n/a	n/a
3	CTCF	chr11:73805640-73805790	HMEC	breast:	n/a	n/a
4	CTCF	chr11:73805520-73805670	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr11:73805513-73805710	A549	lung:	n/a	n/a
6	CTCF	chr11:73805520-73805670	AG04449	skin:	n/a	n/a
7	CTCF	chr11:73805568-73805721	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:73805560-73805710	Caco-2	colon:	n/a	n/a
9	CTCF	chr11:73805420-73805570	HMEC	breast:	n/a	n/a
10	CTCF	chr11:73805584-73805694	NHEK	skin:	n/a	n/a
11	CTCF	chr11:73805560-73805710	NHEK	skin:	n/a	n/a
12	CTCF	chr11:73805520-73805670	A549	lung:	n/a	n/a
13	CTCF	chr11:73805534-73805721	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:73805480-73805630	SAEC	small airway:	n/a	n/a
15	CTCF	chr11:73805608-73805673	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:73805545-73805713	A549	lung:	n/a	n/a
17	CTCF	chr11:73805593-73805641	Medullo	brain:	n/a	n/a
18	CTCF	chr11:73805580-73805730	RPTEC	kidney:	n/a	n/a
19	CTCF	chr11:73805506-73805875	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:73805394-73805886	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:73805480-73805630	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr11:73805615-73805657	Gliobla	brain:	n/a	n/a
23	CTCF	chr11:73805540-73805690	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr11:73805640-73805790	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr11:73805480-73805630	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr11:73805544-73805686	LNCaP	prostate:	n/a	n/a
27	CTCF	chr11:73805489-73805758	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:73805520-73805670	HMEC	breast:	n/a	n/a
29	CTCF	chr11:73805580-73805730	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:73805640-73805694	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:73805540-73805690	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr11:73805540-73805690	HAc	cerebellar:	n/a	n/a
33	CTCF	chr11:73805500-73805650	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr11:73805600-73805750	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr11:73805600-73805750	Caco-2	colon:	n/a	n/a
36	CTCF	chr11:73805620-73805770	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:73805391-73805949	HCT-116	colon:	n/a	n/a
38	CTCF	chr11:73805538-73805730	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:73805605-73805693	Hela-S3	cervix:	n/a	n/a
40	GATA3	chr11:73805498-73805965	T-47D	breast:	n/a	n/a
41	KAT2A	chr11:73805902-73806013	GM12878	blood:	n/a	n/a
42	RAD21	chr11:73805453-73805824	MCF-7	breast:	n/a	n/a
43	RAD21	chr11:73805422-73805737	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr11:73805410-73805911	HCT-116	colon:	n/a	n/a
45	RAD21	chr11:73805476-73805827	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr11:73805494-73805862	A549	lung:	n/a	n/a
47	RAD21	chr11:73805369-73805860	HCT-116	colon:	n/a	n/a
48	RAD21	chr11:73805549-73805722	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr11:73805404-73805915	MCF-7	breast:	n/a	n/a
50	RAD21	chr11:73805564-73805730	SK-N-SH_RA	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73802596..73805721-chr11:73808756..73811931,3	MCF-7	breast:
2	chr11:73805096..73806451-chr11:73937582..73938571,3	MCF-7	breast:
3	chr11:73805175..73806067-chr11:73937886..73938551,2	MCF-7	breast:
4	chr11:73706788..73709340-chr11:73804730..73807192,2	MCF-7	breast:
5	chr11:73800883..73804141-chr11:73806009..73807882,3	K562	blood:

No data

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000256723	chromatin interactions
ENSG00000168014	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147062406	chr11:73805541-73805542	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182609736	chr11:73805552-73805553	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570998394	chr11:73805556-73805557	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536755574	chr11:73805565-73805566	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138364279	chr11:73805594-73805595	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs573319636	chr11:73805626-73805627	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534779964	chr11:73805672-73805673	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs553147280	chr11:73805674-73805675	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542294506	chr11:73805707-73805708	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188368295	chr11:73805773-73805774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553212458	chr11:73805806-73805807	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573102415	chr11:73805844-73805845	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12574047	chr11:73805889-73805890	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs565083844	chr11:73805901-73805902	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573028886	chr11:73805902-73805903	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192202597	chr11:73805934-73805935	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184528212	chr11:73805956-73805957	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12574038	chr11:73805971-73805972	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs143872186	chr11:73805984-73805985	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146328334	chr11:73806003-73806004	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12574039	chr11:73806024-73806025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560834592	chr11:73806097-73806098	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532732211	chr11:73806173-73806174	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
3	chr11:73782600-73823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:73785600-73823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:73787800-73811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:73794600-73823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:73794800-73806600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:73794800-73806600	Strong transcription	Fetal Lung	lung
9	chr11:73795000-73806000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:73795000-73806000	Strong transcription	Brain Anterior Caudate	brain
11	chr11:73795000-73806400	Strong transcription	Adipose Nuclei	Adipose
12	chr11:73795000-73806600	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:73795000-73808600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:73795000-73817400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:73795000-73817600	Strong transcription	Primary B cells from cord blood	blood
16	chr11:73795200-73805800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr11:73795200-73806000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:73795200-73806000	Strong transcription	Placenta	Placenta
19	chr11:73795200-73806400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:73795200-73806400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:73795200-73806400	Strong transcription	HSMMtube	muscle
22	chr11:73795200-73806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:73795200-73807200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:73795200-73814600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:73795200-73814600	Strong transcription	Left Ventricle	heart
26	chr11:73795200-73814800	Strong transcription	Liver	Liver
27	chr11:73795200-73815200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:73795200-73817600	Strong transcription	Primary T cells from cord blood	blood
29	chr11:73795200-73817600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:73795200-73818200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:73795200-73820600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:73795200-73823800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:73795400-73817800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:73795600-73806000	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr11:73795800-73806400	Strong transcription	Fetal Brain Female	brain
36	chr11:73795800-73806600	Strong transcription	Hela-S3	cervix
37	chr11:73795800-73815000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:73795800-73817800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:73796000-73807600	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:73796000-73817800	Strong transcription	HSMM	muscle
41	chr11:73796400-73805600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:73796600-73806600	Strong transcription	Fetal Intestine Large	intestine
43	chr11:73796800-73806600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:73797000-73806000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73797000-73812600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:73797000-73813600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:73797200-73807400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:73797200-73812600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:73797200-73817600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:73797400-73805800	Strong transcription	HUVEC	blood vessel

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