Variant report

Variant	esv3446861
Chromosome Location	chr11:64575295-64575636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64575266-64575308	K562	blood:	n/a	n/a
2	POLR2A	chr11:64575363-64575917	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:64575387-64575399	K562	blood:	n/a	n/a
4	POLR2A	chr11:64574793-64575907	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:64575491-64575533	K562	blood:	n/a	n/a
6	POLR2A	chr11:64575425-64575454	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64556435..64558836-chr11:64573959..64576941,2	MCF-7	breast:
2	chr11:64569062..64575536-chr11:64608720..64614805,15	MCF-7	breast:
3	chr11:64571014..64575800-chr11:64609684..64614421,7	K562	blood:
4	chr11:64575458..64578440-chr11:64655373..64657012,2	MCF-7	breast:
5	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
6	chr11:64575180..64578002-chr11:65268196..65269989,2	K562	blood:
7	chr11:64526958..64529001-chr11:64574985..64577155,2	MCF-7	breast:
8	chr11:64574846..64575472-chr11:64621391..64622390,2	K562	blood:
9	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
10	chr11:64574624..64577319-chr11:64601791..64604479,3	MCF-7	breast:
11	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
12	chr11:64567558..64572906-chr11:64572928..64575629,5	MCF-7	breast:
13	chr11:64575575..64578460-chr11:64644399..64646025,3	MCF-7	breast:
14	chr11:64573809..64575910-chr11:64600616..64603270,2	K562	blood:
15	chr11:64563150..64565307-chr11:64574970..64577233,2	K562	blood:

No data

Variant related genes	Relation type
MEN1	TF binding region
MAP4K2	TF binding region
ENSG00000168067	chromatin interactions
ENSG00000269038	chromatin interactions
ENSG00000171219	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000068976	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000168066	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200876611	chr11:64575315-64575316	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs180737290	chr11:64575345-64575346	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs202134234	chr11:64575354-64575355	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs386134258	chr11:64575361-64575362	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs386134257	chr11:64575365-64575366	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs150512958	chr11:64575420-64575421	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs104894257	chr11:64575423-64575424	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs104894258	chr11:64575424-64575425	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs527294715	chr11:64575426-64575427	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs142862945	chr11:64575441-64575442	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs547249181	chr11:64575447-64575448	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs199706698	chr11:64575454-64575455	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs104894262	chr11:64575466-64575467	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs146568011	chr11:64575486-64575487	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs376872829	chr11:64575491-64575492	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs200155578	chr11:64575492-64575493	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs560870111	chr11:64575504-64575505	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs607969	chr11:64575505-64575506	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143329068	chr11:64575506-64575507	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs71526465	chr11:64575512-64575513	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs386134256	chr11:64575514-64575515	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs200432722	chr11:64575517-64575518	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs146759807	chr11:64575525-64575526	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs386134255	chr11:64575551-64575552	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs377461506	chr11:64575574-64575575	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs369411199	chr11:64575583-64575584	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs538380993	chr11:64575630-64575631	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64571400-64577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:64571600-64576600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:64571800-64575600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:64571800-64575800	Strong transcription	Thymus	Thymus
5	chr11:64571800-64576200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64571800-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:64571800-64576600	Weak transcription	GM12878-XiMat	blood
8	chr11:64571800-64576800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:64571800-64576800	Weak transcription	Psoas Muscle	Psoas
10	chr11:64571800-64576800	Weak transcription	HUVEC	blood vessel
11	chr11:64571800-64576800	Weak transcription	NH-A	brain
12	chr11:64571800-64577000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:64571800-64577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:64571800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:64571800-64577000	Weak transcription	HSMMtube	muscle
16	chr11:64572000-64575400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:64572000-64575400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:64572000-64575400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:64572000-64575600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:64572000-64575600	Strong transcription	Brain Anterior Caudate	brain
21	chr11:64572000-64575600	Strong transcription	Brain Hippocampus Middle	brain
22	chr11:64572000-64575600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:64572000-64575600	Strong transcription	Osteobl	bone
24	chr11:64572000-64575800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:64572000-64575800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:64572000-64575800	Strong transcription	Primary T cells from cord blood	blood
27	chr11:64572000-64576000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:64572000-64576000	Strong transcription	Brain Cingulate Gyrus	brain
29	chr11:64572000-64576000	Strong transcription	Fetal Lung	lung
30	chr11:64572000-64576000	Strong transcription	Fetal Thymus	thymus
31	chr11:64572000-64576000	Strong transcription	NHEK	skin
32	chr11:64572000-64576200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:64572000-64576200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr11:64572000-64576400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:64572000-64576400	Strong transcription	Fetal Stomach	stomach
36	chr11:64572000-64576600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:64572000-64576800	Strong transcription	Fetal Intestine Small	intestine
38	chr11:64572000-64577000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:64572000-64577000	Weak transcription	Small Intestine	intestine
40	chr11:64572000-64577400	Weak transcription	Aorta	Aorta
41	chr11:64572200-64575600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:64572200-64575600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:64572200-64575600	Strong transcription	Ovary	ovary
44	chr11:64572200-64575600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:64572200-64575600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:64572200-64575800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:64572200-64575800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:64572200-64575800	Strong transcription	Primary B cells from cord blood	blood
49	chr11:64572200-64576200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:64572200-64576200	Strong transcription	Fetal Intestine Large	intestine

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