Variant report

Variant	esv3350047
Chromosome Location	chr11:66054759-66055124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:66054469-66058486	Hela-S3	cervix:	n/a	n/a
2	MAFF	chr11:66054917-66055015	HepG2	liver:	n/a	chr11:66054960-66054978
3	MAFK	chr11:66054917-66055019	HepG2	liver:	n/a	chr11:66054962-66054977
4	MAFK	chr11:66054950-66054994	HepG2	liver:	n/a	chr11:66054962-66054977
5	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
6	POLR2A	chr11:66053955-66057415	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:66054839-66057340	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:66055109-66055191	K562	blood:	n/a	n/a
9	POLR2A	chr11:66055037-66055774	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:66054796-66057408	K562	blood:	n/a	n/a
11	POLR2A	chr11:66054255-66055058	K562	blood:	n/a	n/a
12	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:66054763-66055401	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:66055046-66055080	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:66055102-66058883	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:66054822-66055167	MCF-7	breast:	n/a	n/a
17	POLR2A	chr11:66054135-66055044	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:66053948-66057304	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr11:66054531-66054835	HepG2	liver:	n/a	n/a
20	SPI1	chr11:66054776-66055639	HL-60	blood:	n/a	chr11:66055400-66055407
21	SPI1	chr11:66054990-66055500	HL-60	blood:	n/a	chr11:66055400-66055407

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66054499..66057435-chr11:66115136..66117035,2	MCF-7	breast:
2	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
3	chr11:66041439..66043181-chr11:66053492..66056458,2	MCF-7	breast:
4	chr11:65625599..65627439-chr11:66053239..66055711,2	K562	blood:
5	chr11:66054433..66056920-chr11:66384363..66386136,2	K562	blood:
6	chr11:66054909..66058395-chr11:66084021..66087571,3	K562	blood:
7	chr11:66023140..66025945-chr11:66052736..66056629,3	MCF-7	breast:
8	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
9	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
10	chr11:66052361..66057023-chr11:66137906..66140994,4	MCF-7	breast:
11	chr11:66054162..66056937-chr11:66109546..66111530,2	K562	blood:
12	chr11:66054404..66057808-chr11:66078165..66081775,4	MCF-7	breast:
13	chr11:66025864..66027446-chr11:66054760..66056847,2	MCF-7	breast:
14	chr11:66054488..66057665-chr11:66080176..66082833,4	K562	blood:
15	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
16	chr11:65987811..65990997-chr11:66051307..66054931,3	MCF-7	breast:
17	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
18	chr11:66054081..66055900-chr11:66092894..66095581,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM151A	TF binding region
YIF1A	TF binding region
ENSG00000255468	chromatin interactions
ENSG00000174684	chromatin interactions
ENSG00000254762	chromatin interactions
ENSG00000174996	chromatin interactions
ENSG00000174669	chromatin interactions
ENSG00000174791	chromatin interactions
ENSG00000254756	chromatin interactions
ENSG00000174744	chromatin interactions
ENSG00000174903	chromatin interactions
ENSG00000175115	chromatin interactions
ENSG00000254458	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000174807	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116184734	chr11:66054778-66054779	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs510398	chr11:66054823-66054824	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs191038529	chr11:66054824-66054825	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs535396151	chr11:66054909-66054910	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs181383564	chr11:66054936-66054937	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs185226473	chr11:66055017-66055018	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs80286472	chr11:66055025-66055026	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs148356112	chr11:66055057-66055058	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs142277735	chr11:66055077-66055078	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs201341472	chr11:66055079-66055080	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs374138022	chr11:66055087-66055088	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs146393210	chr11:66055091-66055092	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs565468	chr11:66055093-66055094	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs201573906	chr11:66055095-66055096	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs139558494	chr11:66055107-66055108	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs371922483	chr11:66055110-66055111	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs200236377	chr11:66055111-66055112	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
2	chr11:66047400-66055400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:66049800-66054800	Weak transcription	HSMMtube	muscle
4	chr11:66050200-66054800	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr11:66050400-66054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:66050400-66055000	Weak transcription	Left Ventricle	heart
7	chr11:66050400-66055200	Weak transcription	Fetal Heart	heart
8	chr11:66050400-66055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:66050400-66055400	Weak transcription	Psoas Muscle	Psoas
10	chr11:66050600-66054800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:66050600-66055000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:66050600-66055200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:66050600-66055200	Strong transcription	NHLF	lung
14	chr11:66050600-66055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:66050600-66055400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:66050600-66055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:66050800-66055000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:66050800-66055200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66050800-66055200	Weak transcription	Primary B cells from cord blood	blood
20	chr11:66050800-66055200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:66050800-66055200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:66050800-66055200	Weak transcription	Hela-S3	cervix
23	chr11:66050800-66055400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:66050800-66055400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:66051000-66054800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:66051000-66054800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:66051000-66054800	Strong transcription	Thymus	Thymus
28	chr11:66051000-66054800	Weak transcription	Dnd41	blood
29	chr11:66051000-66055400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:66051000-66055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:66051000-66055400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:66051800-66055000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:66051800-66055200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:66052000-66055200	Strong transcription	NHEK	skin
35	chr11:66052200-66054800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:66052200-66055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:66052600-66054800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:66052600-66054800	Genic enhancers	HepG2	liver
39	chr11:66052600-66055200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:66052800-66055400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:66053000-66054800	Weak transcription	Brain Anterior Caudate	brain
42	chr11:66053000-66054800	Weak transcription	Fetal Brain Male	brain
43	chr11:66053000-66055200	Weak transcription	HMEC	breast
44	chr11:66053000-66055400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:66053200-66054800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:66053200-66055400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:66053400-66054800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:66053400-66054800	Weak transcription	Adipose Nuclei	Adipose
49	chr11:66053400-66055000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:66053400-66055000	Strong transcription	Fetal Brain Female	brain

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