Variant report

Variant	esv3471818
Chromosome Location	chr11:93910623-93911341
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	chr11:93907084..93908799-chr11:93910378..93911922,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184817637	chr11:93910645-93910646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564543005	chr11:93910651-93910652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532026936	chr11:93910686-93910687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75500319	chr11:93910730-93910731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534394584	chr11:93910738-93910739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3020014	chr11:93910739-93910740	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567973521	chr11:93910794-93910795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536921445	chr11:93910825-93910826	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555094638	chr11:93910834-93910835	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374623796	chr11:93910871-93910872	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11828416	chr11:93910895-93910896	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534233642	chr11:93910896-93910897	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190267334	chr11:93910926-93910927	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570853459	chr11:93910986-93910987	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538281315	chr11:93911000-93911001	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556677196	chr11:93911012-93911013	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574859761	chr11:93911016-93911017	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113568820	chr11:93911022-93911023	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75708898	chr11:93911027-93911028	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554479970	chr11:93911030-93911031	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573048696	chr11:93911122-93911123	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540133708	chr11:93911165-93911166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182439063	chr11:93911192-93911193	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576416560	chr11:93911197-93911198	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543834278	chr11:93911199-93911200	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562574296	chr11:93911214-93911215	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138286589	chr11:93911234-93911235	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548723383	chr11:93911235-93911236	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79013447	chr11:93911288-93911289	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199551373	chr11:93911334-93911335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	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
Breast cancer	18852474	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93884000-93912800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:93885200-93916200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:93885400-93911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:93886000-93913000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:93886200-93910800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:93886600-93913000	Weak transcription	K562	blood
7	chr11:93886800-93912800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:93887000-93911600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:93887600-93910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:93887600-93911600	Weak transcription	Spleen	Spleen
11	chr11:93887800-93910800	Weak transcription	Liver	Liver
12	chr11:93889800-93910800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:93889800-93911400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:93889800-93912800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:93890200-93910800	Weak transcription	Thymus	Thymus
16	chr11:93895800-93911000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:93896200-93911600	Weak transcription	Ovary	ovary
18	chr11:93897800-93920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:93900400-93910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:93900400-93916000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:93900600-93912200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:93901200-93910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:93901200-93911600	Weak transcription	Fetal Brain Female	brain
24	chr11:93901200-93913200	Weak transcription	Brain Substantia Nigra	brain
25	chr11:93901200-93917200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:93901400-93921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:93901800-93914000	Weak transcription	Esophagus	oesophagus
28	chr11:93902000-93911400	Weak transcription	Fetal Kidney	kidney
29	chr11:93902200-93911600	Weak transcription	Pancreas	Pancrea
30	chr11:93902200-93911800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:93902400-93911400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:93902800-93911400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr11:93903000-93911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:93904200-93911200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:93904200-93911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:93904400-93913800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr11:93904600-93911800	Weak transcription	GM12878-XiMat	blood
38	chr11:93904800-93911400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:93904800-93920000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:93905200-93911600	Weak transcription	Lung	lung
41	chr11:93905400-93910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:93905400-93910800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:93905400-93910800	Weak transcription	Left Ventricle	heart
44	chr11:93905400-93911000	Weak transcription	HepG2	liver
45	chr11:93905400-93919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:93905600-93911200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:93905600-93911200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:93905600-93911600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:93905600-93914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:93905600-93914800	Weak transcription	Small Intestine	intestine

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