Variant report

Variant	esv3349342
Chromosome Location	chr11:65824433-65824920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65824740-65824890	A549	lung:	n/a	n/a
2	CTCF	chr11:65824720-65824870	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:65824884-65825255	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:65824535-65824760	K562	blood:	n/a	n/a
5	POLR2A	chr11:65824500-65824855	K562	blood:	n/a	n/a
6	POLR2A	chr11:65824119-65824526	K562	blood:	n/a	n/a
7	POLR2A	chr11:65824027-65824491	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:65823967-65824449	K562	blood:	n/a	n/a
9	POLR2A	chr11:65824017-65824491	K562	blood:	n/a	n/a
10	POLR2A	chr11:65824568-65824716	K562	blood:	n/a	n/a
11	POLR2A	chr11:65823938-65824563	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65822840..65824603-chr11:65843148..65845154,2	MCF-7	breast:
2	chr1:109203361..109204275-chr11:65824383..65825152,2	MCF-7	breast:
3	chr11:65656005..65658506-chr11:65823963..65825663,2	MCF-7	breast:
4	chr11:65815755..65817643-chr11:65824543..65827517,2	MCF-7	breast:

No data

Variant related genes	Relation type
SF3B2	TF binding region
ENSG00000175229	chromatin interactions
ENSG00000162639	chromatin interactions
ENSG00000172500	chromatin interactions
ENSG00000175602	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 96 )

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	rs548405368	chr11:65824433-65824434	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs200940489	chr11:65824442-65824443	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs370231065	chr11:65824453-65824454	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs547404	chr11:65824472-65824473	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs550851256	chr11:65824481-65824482	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs183705047	chr11:65824515-65824516	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs539822763	chr11:65824516-65824517	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs553064424	chr11:65824520-65824521	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs573301780	chr11:65824544-65824545	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs535562786	chr11:65824546-65824547	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs372263537	chr11:65824691-65824692	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs377149955	chr11:65824693-65824694	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs369292605	chr11:65824727-65824728	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs575508105	chr11:65824728-65824729	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs372204235	chr11:65824737-65824738	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs200330809	chr11:65824765-65824766	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs187615832	chr11:65824772-65824773	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs374892362	chr11:65824784-65824785	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs369029996	chr11:65824785-65824786	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs201649157	chr11:65824799-65824800	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs77713633	chr11:65824821-65824822	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs577815411	chr11:65824884-65824885	Strong transcription Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs376335850	chr11:65824897-65824898	Strong transcription Weak transcription	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:130 , 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	chr11:65821000-65825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:65821000-65835600	Weak transcription	Right Atrium	heart
4	chr11:65821000-65836600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:65821000-65836600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65821200-65824600	Genic enhancers	Adipose Nuclei	Adipose
7	chr11:65821200-65828200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:65821200-65829000	Weak transcription	Fetal Heart	heart
9	chr11:65821200-65832000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:65821200-65832200	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:65821200-65835400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:65821200-65835600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:65821200-65836000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:65821200-65836000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:65821200-65836000	Strong transcription	Fetal Intestine Large	intestine
16	chr11:65821200-65836000	Strong transcription	NHLF	lung
17	chr11:65821200-65836200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:65821200-65836600	Strong transcription	Fetal Stomach	stomach
19	chr11:65821400-65825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:65821400-65826200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:65821400-65826400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:65821400-65827800	Weak transcription	Fetal Brain Male	brain
23	chr11:65821400-65830400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:65821400-65831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65821400-65831800	Strong transcription	Fetal Intestine Small	intestine
26	chr11:65821400-65831800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:65821400-65833800	Strong transcription	Placenta	Placenta
28	chr11:65821400-65835200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:65821400-65835200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr11:65821400-65835400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:65821400-65835600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:65821400-65835600	Strong transcription	Brain Germinal Matrix	brain
33	chr11:65821400-65835800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:65821400-65836600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:65821600-65829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:65821600-65835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:65821600-65835400	Strong transcription	Fetal Thymus	thymus
38	chr11:65821600-65836000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:65821800-65831800	Strong transcription	Lung	lung
40	chr11:65821800-65832000	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:65821800-65832800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:65821800-65833600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:65821800-65833800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:65821800-65835400	Strong transcription	Spleen	Spleen
45	chr11:65821800-65835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:65821800-65835800	Strong transcription	K562	blood
47	chr11:65821800-65836000	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr11:65821800-65836000	Strong transcription	Primary T cells from cord blood	blood
49	chr11:65821800-65836600	Strong transcription	Thymus	Thymus
50	chr11:65822000-65827200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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