Variant report

Variant	esv3330622
Chromosome Location	chr11:65825469-65825792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65825611-65825982	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:65825385-65825965	K562	blood:	n/a	n/a
3	POLR2A	chr11:65825536-65825757	K562	blood:	n/a	n/a
4	POLR2A	chr11:65825399-65826349	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65825756-65825831	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:65825712-65825883	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:65825668-65825709	MCF-7	breast:	n/a	n/a
8	POLR2A	chr11:65825541-65826182	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65825417-65825931	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:65825727-65825753	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:65825489-65826152	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:65825622-65825903	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:65825474-65825508	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:65825461-65825822	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:65666218..65668935-chr11:65825625..65827818,2	K562	blood:
2	chr11:65656060..65659299-chr11:65825283..65827500,3	K562	blood:
3	chr11:65815755..65817643-chr11:65824543..65827517,2	MCF-7	breast:
4	chr11:65656005..65658506-chr11:65823963..65825663,2	MCF-7	breast:
5	chr11:65625214..65627080-chr11:65825181..65826865,2	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B2	TF binding region
ENSG00000175592	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000172757	chromatin interactions
ENSG00000175229	chromatin interactions
ENSG00000172500	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11227393	chr11:65825470-65825471	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201543029	chr11:65825478-65825479	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs369871349	chr11:65825494-65825495	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs370569248	chr11:65825512-65825513	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs140538228	chr11:65825525-65825526	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs573545693	chr11:65825534-65825535	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs372551951	chr11:65825594-65825595	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs377557880	chr11:65825604-65825605	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs371157350	chr11:65825635-65825636	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs540147038	chr11:65825650-65825651	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs373440573	chr11:65825651-65825652	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs562245151	chr11:65825679-65825680	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs182682462	chr11:65825745-65825746	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs377610636	chr11:65825752-65825753	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs370687007	chr11:65825753-65825754	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs374968563	chr11:65825766-65825767	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs367988082	chr11:65825767-65825768	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs371893866	chr11:65825770-65825771	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 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
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	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65820800-65827600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
3	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65821200-65828200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:65821200-65829000	Weak transcription	Fetal Heart	heart
7	chr11:65821200-65832000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:65821200-65832200	Strong transcription	Fetal Muscle Leg	muscle
9	chr11:65821200-65835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
14	chr11:65821200-65836000	Strong transcription	NHLF	lung
15	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
17	chr11:65821400-65825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:65821400-65826200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:65821400-65826400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:65821400-65827800	Weak transcription	Fetal Brain Male	brain
21	chr11:65821400-65830400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:65821400-65831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65821400-65831800	Strong transcription	Fetal Intestine Small	intestine
24	chr11:65821400-65831800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:65821400-65833800	Strong transcription	Placenta	Placenta
26	chr11:65821400-65835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:65821400-65835200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:65821400-65835400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:65821400-65835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:65821400-65835600	Strong transcription	Brain Germinal Matrix	brain
31	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:65821600-65829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:65821600-65835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:65821600-65835400	Strong transcription	Fetal Thymus	thymus
36	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:65821800-65831800	Strong transcription	Lung	lung
38	chr11:65821800-65832000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr11:65821800-65832800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:65821800-65833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:65821800-65833800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:65821800-65835400	Strong transcription	Spleen	Spleen
43	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:65821800-65835800	Strong transcription	K562	blood
45	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
47	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
48	chr11:65822000-65827200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:65822000-65831600	Strong transcription	Esophagus	oesophagus
50	chr11:65822000-65831600	Strong transcription	Right Ventricle	heart

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