Variant report

Variant	esv3464486
Chromosome Location	chr11:93577940-93578241
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	chr11:93573034..93574982-chr11:93577351..93579651,2	K562	blood:
2	chr11:93578025..93580414-chr11:93582241..93584274,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214376	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555576546	chr11:93577956-93577957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547390783	chr11:93577982-93577983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368658605	chr11:93578003-93578004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78758439	chr11:93578004-93578005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199819585	chr11:93578005-93578006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374842642	chr11:93578007-93578008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368464540	chr11:93578008-93578009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551560337	chr11:93578013-93578014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569854434	chr11:93578028-93578029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78147257	chr11:93578037-93578038	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535154491	chr11:93578046-93578047	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114927916	chr11:93578047-93578048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567590155	chr11:93578064-93578065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187760587	chr11:93578185-93578186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138459927	chr11:93578191-93578192	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs656966	chr11:93578197-93578198	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371895606	chr11:93578210-93578211	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs201474481	chr11:93578211-93578212	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199511413	chr11:93578212-93578213	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200347637	chr11:93578213-93578214	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93570400-93579200	Enhancers	Stomach Mucosa	stomach
2	chr11:93572600-93582800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:93574400-93582800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:93574800-93579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:93575800-93578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:93575800-93578200	Weak transcription	HSMMtube	muscle
7	chr11:93575800-93578400	Weak transcription	Osteobl	bone
8	chr11:93575800-93582600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:93575800-93582800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:93576000-93578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:93576000-93578200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:93576000-93578200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:93576600-93581800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:93576600-93583000	Weak transcription	Esophagus	oesophagus
15	chr11:93577400-93578000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:93577400-93578200	Weak transcription	NHDF-Ad	bronchial
17	chr11:93577400-93578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:93577400-93579600	Enhancers	NHEK	skin
19	chr11:93577600-93579000	Enhancers	Placenta	Placenta
20	chr11:93577800-93579000	Enhancers	HMEC	breast
21	chr11:93577800-93579200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:93577800-93580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:93578000-93578400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:93578000-93580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:93578200-93579000	Enhancers	NHDF-Ad	bronchial
26	chr11:93578200-93579200	Enhancers	HSMMtube	muscle
27	chr11:93578200-93579600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:93578200-93579800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:93578200-93579800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:93578200-93579800	Enhancers	HSMM	muscle
31	chr11:93578200-93580000	Enhancers	Muscle Satellite Cultured Cells	--

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