Variant report

Variant	esv33033
Chromosome Location	chr11:64000554-64001250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:64000677-64000846	K562	blood:	n/a	n/a
2	CTCF	chr11:64000520-64000614	Kidney_OC	kidney:	n/a	n/a
3	MTA3	chr11:64001013-64001494	GM12878	blood:	n/a	n/a
4	MXI1	chr11:64001202-64003235	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr11:64000985-64002074	IMR90	lung:	n/a	n/a
6	POLR2A	chr11:64000905-64001935	U87	brain:	n/a	n/a
7	POLR2A	chr11:63999694-64001958	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:64001129-64001913	Raji	blood:	n/a	n/a
9	POLR2A	chr11:64000981-64001929	U87	brain:	n/a	n/a
10	POLR2A	chr11:64000989-64003049	K562	blood:	n/a	n/a
11	POLR2A	chr11:64001070-64001916	U87	brain:	n/a	n/a
12	POLR2A	chr11:64001247-64002740	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:64001174-64001970	K562	blood:	n/a	n/a
14	POLR2A	chr11:63999167-64000831	K562	blood:	n/a	n/a
15	POLR2A	chr11:64000979-64001285	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64001094-64001144	A549	lung:	n/a
2	chr11:64001094-64001144	HEK293	kidney:	embryo
3	chr11:64001094-64001144	NB4	blood:	n/a
4	chr11:64001094-64001144	ProgFib	skin:	n/a
5	chr11:64001094-64001144	H1-hESC	embryonic stem cell:	embryo
6	chr11:64001094-64001144	HCF	heart:	n/a
7	chr11:64001094-64001144	HNPCEpiC	eye:	n/a
8	chr11:64001094-64001144	HepG2	liver:	n/a
9	chr11:64001094-64001144	HCM	heart:	n/a
10	chr11:64001094-64001144	LNCaP	prostate:	n/a
11	chr11:64001094-64001144	Hela-S3	cervix:	n/a
12	chr11:64001094-64001144	MCF-7	breast:	n/a
13	chr11:64001094-64001144	HRPEpiC	eye:	n/a
14	chr11:64001094-64001144	AoSMC	blood vessel:	n/a
15	chr11:64001094-64001144	HRCEpiC	kidney:	n/a
16	chr11:64001094-64001144	SK-N-SH_RA	brain:	n/a
17	chr11:64001094-64001144	GM12892	blood:	n/a
18	chr11:64001094-64001144	Jurkat	blood:	n/a
19	chr11:64001094-64001144	MCF10A-Er-Src	breast:	n/a
20	chr11:64001094-64001144	NHBE	bronchial:	n/a
21	chr11:64001094-64001144	NT2-D1	testis:	n/a
22	chr11:64001094-64001144	HUVEC	blood vessel:	n/a
23	chr11:64001094-64001144	IMR90	lung:	fetal
24	chr11:64001094-64001144	AG09319	gingival:	n/a
25	chr11:64001094-64001144	AG04449	skin:	fetal
26	chr11:64001094-64001144	Caco-2	colon:	n/a
27	chr11:64001094-64001144	Hepatocyte	liver:	n/a
28	chr11:64001094-64001144	RPTEC	kidney:	n/a
29	chr11:64001094-64001144	U87	brain:	n/a
30	chr11:64001094-64001144	GM12891	blood:	n/a
31	chr11:64001094-64001144	SKMC	muscle:	n/a
32	chr11:64001094-64001144	HRE	kidney:	n/a
33	chr11:64001094-64001144	PANC-1	pancreas:	n/a
34	chr11:64001094-64001144	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:64001094-64001144	K562	blood:	n/a
36	chr11:64001094-64001144	PFSK-1	brain:	n/a
37	chr11:64001094-64001144	HL-60	blood:	n/a
38	chr11:64001094-64001144	HCPEpiC	choroid plexus:	n/a
39	chr11:64001094-64001144	GM06990	blood:	n/a
40	chr11:64001094-64001144	AG04450	lung:	fetal
41	chr11:64001094-64001144	HEEpiC	esophagus:	n/a
42	chr11:64001094-64001144	PrEC	prostate:	n/a
43	chr11:64001094-64001144	GM12878	blood:	n/a
44	chr11:64001094-64001144	ovcar-3	ovarian:	n/a
45	chr11:64001094-64001144	SAEC	small airway:	n/a
46	chr11:64001094-64001144	GM19239	blood:	n/a
47	chr11:64001094-64001144	CMK	blood:	n/a
48	chr11:64001094-64001144	HIPEpiC	eye:	n/a
49	chr11:64001094-64001144	HAEpiC	amniotic membrane:	n/a
50	chr11:64001094-64001144	HMEC	breast:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64000315..64002426-chr11:64053899..64055582,2	MCF-7	breast:
2	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
3	chr11:64001215..64003769-chr11:64062719..64064324,2	MCF-7	breast:
4	chr11:63998837..64000808-chr11:64079142..64081596,2	MCF-7	breast:
5	chr11:64001124..64003237-chr5:180669340..180672210,2	MCF-7	breast:
6	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
7	chr11:64000008..64002901-chr11:64125113..64127418,2	MCF-7	breast:
8	chr11:63952913..63955052-chr11:64000550..64003768,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAJC4-1	chr11:64000964-64001452	NONHSAT021966

No data

Variant related genes	Relation type
DNAJC4	TF binding region
VEGFB	TF binding region
DNAJC4	CpG island
VEGFB	CpG island
ENSG00000133315	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000207024	chromatin interactions
ENSG00000204628	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539669155	chr11:64000595-64000596	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs35090903	chr11:64000598-64000599	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs61761261	chr11:64000646-64000647	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs530370909	chr11:64000667-64000668	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs138210317	chr11:64000671-64000672	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs607873	chr11:64000744-64000745	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs550861201	chr11:64000767-64000768	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs61761262	chr11:64000802-64000803	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
9	rs551727059	chr11:64000847-64000848	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs372289342	chr11:64000858-64000859	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs565654126	chr11:64000871-64000872	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs534676053	chr11:64000883-64000884	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs547852910	chr11:64000951-64000952	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs559820688	chr11:64001002-64001003	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs34564522	chr11:64001039-64001040	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs548086475	chr11:64001064-64001065	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs188525586	chr11:64001127-64001128	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs537387369	chr11:64001152-64001153	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs557279661	chr11:64001216-64001217	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs61761263	chr11:64001237-64001238	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527443627	chr11:64001244-64001245	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs558950079	chr11:64001248-64001249	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 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:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63994600-64001200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63998200-64001000	Enhancers	Fetal Brain Male	brain
3	chr11:63998600-64001000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr11:63998600-64001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:63998600-64001200	Weak transcription	Aorta	Aorta
6	chr11:63998600-64001200	Weak transcription	Small Intestine	intestine
7	chr11:63998600-64001400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:63998600-64001400	Enhancers	Lung	lung
9	chr11:63998800-64000600	Enhancers	Right Ventricle	heart
10	chr11:63998800-64000600	Enhancers	A549	lung
11	chr11:63998800-64000800	Weak transcription	NHLF	lung
12	chr11:63998800-64001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:63998800-64001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:63998800-64001000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:63998800-64001000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:63998800-64001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:63998800-64001000	Weak transcription	Adipose Nuclei	Adipose
18	chr11:63998800-64001000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:63998800-64001000	Weak transcription	Brain Substantia Nigra	brain
20	chr11:63998800-64001000	Enhancers	Colon Smooth Muscle	Colon
21	chr11:63998800-64001000	Enhancers	Esophagus	oesophagus
22	chr11:63998800-64001000	Weak transcription	Fetal Kidney	kidney
23	chr11:63998800-64001000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:63998800-64001000	Enhancers	Placenta	Placenta
25	chr11:63998800-64001000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:63998800-64001000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr11:63998800-64001000	Weak transcription	HUVEC	blood vessel
28	chr11:63998800-64001200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:63998800-64001200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr11:63998800-64001200	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:63998800-64001200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:63998800-64001200	Enhancers	Fetal Heart	heart
33	chr11:63998800-64001200	Enhancers	Fetal Intestine Large	intestine
34	chr11:63998800-64001200	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:63998800-64001200	Enhancers	Fetal Muscle Leg	muscle
36	chr11:63998800-64001200	Enhancers	Pancreas	Pancrea
37	chr11:63998800-64001200	Weak transcription	Right Atrium	heart
38	chr11:63998800-64001200	Weak transcription	HMEC	breast
39	chr11:63998800-64001200	Weak transcription	HSMM	muscle
40	chr11:63998800-64001200	Weak transcription	HSMMtube	muscle
41	chr11:63998800-64001200	Weak transcription	NH-A	brain
42	chr11:63998800-64001400	Enhancers	Primary B cells from peripheral blood	blood
43	chr11:63998800-64001400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:63998800-64001400	Enhancers	Fetal Thymus	thymus
45	chr11:63998800-64001400	Weak transcription	Psoas Muscle	Psoas
46	chr11:63999000-64000600	Genic enhancers	Fetal Stomach	stomach
47	chr11:63999000-64001000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:63999000-64001000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:63999000-64001000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:63999000-64001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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