Variant report

Variant	esv3334170
Chromosome Location	chr11:62295472-62295655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62294509..62298549-chr11:62300947..62305014,4	K562	blood:

Variant related genes	Relation type
ENSG00000250659	chromatin interactions
ENSG00000124942	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138004081	chr11:62295480-62295481	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1292962	chr11:62295484-62295485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1292963	chr11:62295490-62295491	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs1292964	chr11:62295498-62295499	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141750211	chr11:62295504-62295505	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs143740534	chr11:62295506-62295507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111317293	chr11:62295519-62295520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370948520	chr11:62295528-62295529	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373183403	chr11:62295540-62295541	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1298288	chr11:62295549-62295550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200611654	chr11:62295550-62295551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377392482	chr11:62295578-62295579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535321137	chr11:62295627-62295628	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs148170531	chr11:62295632-62295633	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370435916	chr11:62295635-62295636	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548330675	chr11:62295639-62295640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	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
Myelofibrosis	22110671	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	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62276400-62298600	Weak transcription	Pancreas	Pancrea
2	chr11:62276600-62299600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:62276600-62301200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:62276800-62298600	Weak transcription	Brain Substantia Nigra	brain
5	chr11:62276800-62298800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:62277600-62303600	Strong transcription	Fetal Stomach	stomach
7	chr11:62279600-62296200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:62281000-62304000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:62281000-62304800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:62281200-62303200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:62281200-62303400	Strong transcription	Gastric	stomach
12	chr11:62281200-62303800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:62281200-62304000	Strong transcription	Fetal Muscle Leg	muscle
14	chr11:62281200-62306200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:62281400-62303200	Strong transcription	Lung	lung
16	chr11:62281400-62305600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:62281600-62303400	Strong transcription	Fetal Intestine Small	intestine
18	chr11:62281600-62303600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:62281600-62306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:62281800-62303600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr11:62281800-62303600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:62281800-62304200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr11:62281800-62304400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:62281800-62304400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:62281800-62304400	Strong transcription	Placenta	Placenta
26	chr11:62282000-62303400	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:62282000-62303600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:62282000-62303600	Strong transcription	Osteobl	bone
29	chr11:62282000-62303800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:62282000-62304200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:62282000-62304400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr11:62282000-62304800	Strong transcription	HSMM	muscle
33	chr11:62282000-62305400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:62282400-62302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:62282400-62304400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:62282600-62305000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:62283000-62297600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:62283000-62300200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:62283000-62302800	Strong transcription	NH-A	brain
40	chr11:62283000-62304400	Strong transcription	HMEC	breast
41	chr11:62283200-62295600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:62283200-62301200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:62283200-62305000	Strong transcription	NHEK	skin
44	chr11:62283400-62301600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:62283400-62302800	Strong transcription	HUVEC	blood vessel
46	chr11:62283400-62306600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr11:62283600-62303200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:62283800-62299400	Weak transcription	K562	blood
49	chr11:62284000-62300400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:62284200-62303200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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