Variant report

Variant	nsv819292
Chromosome Location	chr11:93436985-93440060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93430723..93433995-chr11:93435605..93437585,3	K562	blood:
2	chr11:93437324..93440222-chr11:93470105..93472885,2	K562	blood:
3	chr11:93439393..93441610-chr11:93467197..93469691,2	K562	blood:
4	chr11:93415308..93417888-chr11:93438253..93439878,2	K562	blood:
5	chr11:93430723..93432846-chr11:93435605..93437585,2	K562	blood:
6	chr11:93437896..93440222-chr11:93469101..93471605,2	K562	blood:
7	chr11:93395504..93399552-chr11:93436710..93441149,5	K562	blood:

Variant related genes	Relation type
ENSG00000166012	chromatin interactions
ENSG00000210825	chromatin interactions
ENSG00000166004	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551652673	chr11:93436991-93436992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569894765	chr11:93436996-93436997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs56047333	chr11:93437003-93437004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369641332	chr11:93437036-93437037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562802043	chr11:93437084-93437085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535103890	chr11:93437092-93437093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553530650	chr11:93437129-93437130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571663898	chr11:93437137-93437138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373512873	chr11:93437160-93437161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538697366	chr11:93437174-93437175	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs551932206	chr11:93437177-93437178	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184276361	chr11:93437182-93437183	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543328273	chr11:93437253-93437254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188530492	chr11:93437266-93437267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573137333	chr11:93437279-93437280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551999183	chr11:93437317-93437318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192904955	chr11:93437326-93437327	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149158249	chr11:93437331-93437332	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184777745	chr11:93437341-93437342	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544641444	chr11:93437345-93437346	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376516777	chr11:93437370-93437371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35291729	chr11:93437414-93437415	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530679150	chr11:93437419-93437420	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377081560	chr11:93437509-93437510	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78365734	chr11:93437564-93437565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115900887	chr11:93437571-93437572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142279369	chr11:93437577-93437578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11020493	chr11:93437604-93437605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs571609188	chr11:93437811-93437812	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539126408	chr11:93437919-93437920	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189294218	chr11:93437937-93437938	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35805434	chr11:93437949-93437950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536533605	chr11:93437961-93437962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180927875	chr11:93437985-93437986	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554872899	chr11:93438009-93438010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6483262	chr11:93438010-93438011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs371020368	chr11:93438086-93438087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535303536	chr11:93438108-93438109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183895862	chr11:93438150-93438151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558738168	chr11:93438151-93438152	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566481402	chr11:93438163-93438164	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577634296	chr11:93438198-93438199	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189406342	chr11:93438205-93438206	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375794898	chr11:93438238-93438239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78999748	chr11:93438291-93438292	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549069867	chr11:93438314-93438315	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568847449	chr11:93438321-93438322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs16919234	chr11:93438360-93438361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75688233	chr11:93438361-93438362	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528403749	chr11:93438368-93438369	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:93399200-93439800	Strong transcription	Dnd41	blood
8	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
15	chr11:93415600-93438200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:93415600-93441400	Strong transcription	Liver	Liver
17	chr11:93415800-93438000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:93416000-93440400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:93419800-93442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:93420600-93441200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:93420800-93441400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:93420800-93444000	Strong transcription	Fetal Thymus	thymus
24	chr11:93421600-93442000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:93422600-93440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:93422800-93437400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:93423600-93442000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:93424000-93442600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:93424800-93440400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:93425600-93438000	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:93426800-93443200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:93426800-93444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:93427000-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:93427000-93442600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:93427000-93443400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
38	chr11:93427400-93440800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:93427600-93441400	Strong transcription	Adipose Nuclei	Adipose
40	chr11:93428000-93438000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:93428600-93441200	Strong transcription	GM12878-XiMat	blood
42	chr11:93429200-93437000	Strong transcription	HMEC	breast
43	chr11:93429200-93442000	Strong transcription	Brain Germinal Matrix	brain
44	chr11:93430400-93440000	Weak transcription	Colonic Mucosa	Colon
45	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
46	chr11:93431400-93439600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:93431600-93440600	Weak transcription	Esophagus	oesophagus
49	chr11:93431600-93441400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr11:93431800-93439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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