Variant report

Variant	nsv527168
Chromosome Location	chr11:93409804-93411153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93410711..93413098-chr11:93461356..93464039,2	K562	blood:
2	chr11:93411054..93413899-chr11:93422766..93424907,2	K562	blood:
3	chr11:93408933..93411947-chr11:93412897..93417212,4	K562	blood:

Variant related genes	Relation type
ENSG00000207112	chromatin interactions
ENSG00000166004	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10765630	chr11:93409804-93409805	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567916444	chr11:93409808-93409809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539216930	chr11:93409809-93409810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528477381	chr11:93409858-93409859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568698763	chr11:93409934-93409935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535482766	chr11:93409976-93409977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555396231	chr11:93409981-93409982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554629390	chr11:93410039-93410040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10765631	chr11:93410045-93410046	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs143397684	chr11:93410067-93410068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529483517	chr11:93410071-93410072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116605588	chr11:93410084-93410085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569324511	chr11:93410173-93410174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10741471	chr11:93410298-93410299	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs11827321	chr11:93410356-93410357	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557543785	chr11:93410420-93410421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140332116	chr11:93410441-93410442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577773234	chr11:93410443-93410444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567053452	chr11:93410461-93410462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534317763	chr11:93410520-93410521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145376892	chr11:93410536-93410537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115898884	chr11:93410580-93410581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538507674	chr11:93410655-93410656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557241766	chr11:93410686-93410687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7940153	chr11:93410687-93410688	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573597246	chr11:93410691-93410692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185537779	chr11:93410692-93410693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190472058	chr11:93410699-93410700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540621194	chr11:93410703-93410704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565233254	chr11:93410726-93410727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542641412	chr11:93410738-93410739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532561487	chr11:93410781-93410782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11020480	chr11:93410796-93410797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544545588	chr11:93410805-93410806	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563231038	chr11:93410853-93410854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76395427	chr11:93410860-93410861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548421754	chr11:93410996-93410997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193280654	chr11:93411078-93411079	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs4753097	chr11:93411153-93411154	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395400-93412200	Weak transcription	Gastric	stomach
2	chr11:93395400-93412200	Weak transcription	Pancreas	Pancrea
3	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
4	chr11:93395600-93411800	Weak transcription	Aorta	Aorta
5	chr11:93395600-93412200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:93395600-93412400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:93395600-93412600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:93395600-93412600	Weak transcription	Colonic Mucosa	Colon
9	chr11:93395600-93417400	Weak transcription	Stomach Mucosa	stomach
10	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:93395800-93411800	Weak transcription	HSMMtube	muscle
12	chr11:93395800-93412200	Weak transcription	Thymus	Thymus
13	chr11:93395800-93413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:93395800-93413400	Weak transcription	Right Ventricle	heart
15	chr11:93395800-93415800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:93396200-93411800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:93396400-93410400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:93396400-93412200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:93396400-93417600	Weak transcription	Fetal Heart	heart
20	chr11:93396600-93412000	Weak transcription	Psoas Muscle	Psoas
21	chr11:93396600-93413200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:93396600-93417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:93396800-93412600	Weak transcription	A549	lung
24	chr11:93396800-93413200	Weak transcription	NHLF	lung
25	chr11:93396800-93415200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:93397600-93416400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:93397800-93416200	Weak transcription	Fetal Brain Male	brain
30	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
31	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:93398800-93414000	Strong transcription	Fetal Thymus	thymus
33	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:93399200-93439800	Strong transcription	Dnd41	blood
39	chr11:93399600-93414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:93399600-93415400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:93399600-93418600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:93399600-93418800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:93399800-93411200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:93399800-93418800	Strong transcription	Adipose Nuclei	Adipose
45	chr11:93399800-93422200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:93399800-93422400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:93400000-93410800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:93400000-93414000	Strong transcription	Liver	Liver
50	chr11:93400000-93414400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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