Variant report

Variant	nsv972062
Chromosome Location	chr11:93462775-93463619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93461422..93463134-chr11:93530254..93533016,2	K562	blood:
2	chr11:93460575..93462984-chr11:93526258..93528931,2	K562	blood:
3	chr11:93459822..93462778-chr11:93509047..93511510,2	K562	blood:
4	chr11:93461422..93463620-chr11:93529792..93531754,2	K562	blood:
5	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
6	chr11:92966947..92969391-chr11:93461362..93463469,2	MCF-7	breast:
7	chr11:93462574..93463074-chr3:156878106..156878609,2	NB4	blood:
8	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSTM5-1	chr11:93463448-93463613	NONHSAT023665
2	lnc-VSTM5-1	chr11:93463520-93463613	NONHSAT023667
3	lnc-VSTM5-1	chr11:93463366-93463613	NONHSAT023661
4	lnc-TAF1D-1	chr11:93459820-93462971	NONHSAT023660
5	lnc-VSTM5-1	chr11:93463448-93463613	NONHSAT023663
6	lnc-VSTM5-1	chr11:93463448-93463613	NONHSAT023664
7	lnc-VSTM5-1	chr11:93463438-93463613	NONHSAT023662
8	lnc-VSTM5-1	chr11:93463449-93463613	NONHSAT023666

No data

Variant related genes	Relation type
ENSG00000238437	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000042429	chromatin interactions
ENSG00000166012	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201958352	chr11:93462788-93462789	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs559743616	chr11:93462834-93462835	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs527564786	chr11:93462866-93462867	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs34341043	chr11:93462884-93462885	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs115546583	chr11:93462895-93462896	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs61738803	chr11:93462897-93462898	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs564226787	chr11:93462944-93462945	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs531493988	chr11:93462953-93462954	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs12277129	chr11:93462957-93462958	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs553922295	chr11:93462985-93462986	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs577331067	chr11:93463024-93463025	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs549727424	chr11:93463029-93463030	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs536047501	chr11:93463050-93463051	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs372250732	chr11:93463055-93463056	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs375798486	chr11:93463061-93463062	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs544194912	chr11:93463068-93463069	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs183120281	chr11:93463070-93463071	Strong transcription Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs568514892	chr11:93463088-93463089	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373561029	chr11:93463093-93463094	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368869877	chr11:93463095-93463096	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs371000677	chr11:93463101-93463102	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs375267654	chr11:93463111-93463112	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs10360	chr11:93463114-93463115	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs74875081	chr11:93463117-93463118	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs200136546	chr11:93463145-93463146	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs540961361	chr11:93463146-93463147	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs554785525	chr11:93463207-93463208	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs142756909	chr11:93463223-93463224	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566122185	chr11:93463249-93463250	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs368314987	chr11:93463271-93463272	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs367653732	chr11:93463305-93463306	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs620212	chr11:93463307-93463308	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs146033905	chr11:93463317-93463318	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs7101779	chr11:93463332-93463333	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs139948226	chr11:93463387-93463388	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs192059303	chr11:93463401-93463402	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs35283939	chr11:93463452-93463453	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs543873230	chr11:93463453-93463454	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs183608074	chr11:93463496-93463497	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs555704606	chr11:93463519-93463520	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs560758949	chr11:93463547-93463548	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs11557555	chr11:93463616-93463617	Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
2	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
4	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:93448000-93465600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:93448600-93465400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
11	chr11:93449400-93463800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:93449400-93465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
14	chr11:93450600-93471800	Weak transcription	Gastric	stomach
15	chr11:93450600-93473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:93451600-93469800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:93451600-93470800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:93451800-93466800	Strong transcription	Dnd41	blood
19	chr11:93453200-93468000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:93453400-93465200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr11:93453600-93468000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:93453800-93465200	Strong transcription	Fetal Intestine Large	intestine
23	chr11:93453800-93471200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:93453800-93471800	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:93453800-93471800	Strong transcription	Fetal Thymus	thymus
26	chr11:93453800-93472400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:93454000-93470400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:93454200-93467000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:93454400-93467800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:93454400-93469000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:93454400-93469400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:93454400-93469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:93454400-93469800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:93454400-93470000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:93454400-93470800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:93454400-93471000	Strong transcription	Fetal Lung	lung
37	chr11:93454600-93471000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:93454600-93471000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:93454800-93471000	Strong transcription	Adipose Nuclei	Adipose
40	chr11:93455000-93466000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr11:93455000-93468000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:93455000-93471200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:93455000-93471800	Strong transcription	Placenta	Placenta
44	chr11:93455200-93467800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:93457400-93465800	Strong transcription	Fetal Brain Female	brain
46	chr11:93457400-93470200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr11:93457600-93467800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:93458200-93464600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:93458200-93465200	Strong transcription	Liver	Liver
50	chr11:93458400-93465400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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