Variant report

Variant	esv3367736
Chromosome Location	chr11:93489300-93489722
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	chr11:93483588..93485531-chr11:93488372..93490114,2	K562	blood:
2	chr11:93471347..93475237-chr11:93486063..93491649,6	K562	blood:

Variant related genes	Relation type
ENSG00000182919	chromatin interactions
ENSG00000166012	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376040210	chr11:93489314-93489315	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs151327710	chr11:93489320-93489321	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377390759	chr11:93489322-93489323	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs397839651	chr11:93489354-93489355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568971255	chr11:93489355-93489356	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374846559	chr11:93489357-93489358	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547311898	chr11:93489434-93489435	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181545909	chr11:93489453-93489454	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35695203	chr11:93489478-93489479	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs71064782	chr11:93489479-93489480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs398017131	chr11:93489496-93489497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78591120	chr11:93489497-93489498	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558549712	chr11:93489583-93489584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs117194591	chr11:93489598-93489599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537634171	chr11:93489625-93489626	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556371918	chr11:93489627-93489628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs5793655	chr11:93489656-93489657	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93475200-93497000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93475400-93490800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:93475400-93490800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:93475600-93490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:93475600-93497000	Weak transcription	NHDF-Ad	bronchial
6	chr11:93476000-93490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:93476000-93491400	Weak transcription	Osteobl	bone
8	chr11:93476000-93495600	Weak transcription	HUVEC	blood vessel
9	chr11:93476000-93497000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:93476000-93497200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:93476000-93498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:93476200-93499800	Weak transcription	NH-A	brain
13	chr11:93477000-93491200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:93477200-93490800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:93477200-93491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:93477200-93491400	Weak transcription	NHLF	lung
17	chr11:93478200-93498800	Weak transcription	Fetal Heart	heart
18	chr11:93478400-93490600	Weak transcription	Psoas Muscle	Psoas
19	chr11:93478600-93489600	Weak transcription	Brain Substantia Nigra	brain
20	chr11:93478600-93489800	Weak transcription	K562	blood
21	chr11:93478600-93490400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:93478600-93490600	Weak transcription	Gastric	stomach
23	chr11:93478600-93498200	Weak transcription	Stomach Mucosa	stomach
24	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:93479000-93490000	Weak transcription	Small Intestine	intestine
26	chr11:93481400-93491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:93482000-93499600	Weak transcription	NHEK	skin
28	chr11:93482400-93499200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:93482800-93498400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:93483000-93497800	Strong transcription	Liver	Liver
31	chr11:93483800-93489800	Weak transcription	HSMM	muscle
32	chr11:93483800-93494200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:93484800-93498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:93485000-93491800	Strong transcription	Fetal Stomach	stomach
35	chr11:93485000-93498600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:93485000-93499800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:93485200-93491400	Strong transcription	Fetal Intestine Large	intestine
38	chr11:93485200-93497200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:93485200-93497600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:93485400-93498600	Strong transcription	Fetal Thymus	thymus
41	chr11:93485600-93492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:93486000-93499000	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:93486200-93497200	Weak transcription	Right Atrium	heart
44	chr11:93486600-93490800	Strong transcription	Fetal Kidney	kidney
45	chr11:93486600-93496000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:93486600-93497000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:93486600-93497000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:93486600-93497200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:93486600-93497800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:93486600-93498800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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