Variant report

Variant	nsv972068
Chromosome Location	chr11:107046970-107048326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr11:107047020-107047151	HepG2	liver:	n/a	chr11:107047096-107047109 chr11:107047097-107047106
2	JUND	chr11:107046942-107047242	HepG2	liver:	n/a	chr11:107047097-107047106
3	MAFK	chr11:107047806-107048123	HepG2	liver:	n/a	chr11:107047958-107047969 chr11:107047958-107047974 chr11:107047958-107047973 chr11:107047958-107047969
4	MAFK	chr11:107047949-107048002	K562	blood:	n/a	chr11:107047958-107047969 chr11:107047958-107047974 chr11:107047958-107047973 chr11:107047958-107047969
5	MAFK	chr11:107047831-107048109	HepG2	liver:	n/a	chr11:107047958-107047969 chr11:107047958-107047974 chr11:107047958-107047973 chr11:107047958-107047969

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107047494-107047544	T-47D	breast:	n/a
2	chr11:107048184-107048234	PrEC	prostate:	n/a
3	chr11:107047888-107047938	HCPEpiC	choroid plexus:	n/a
4	chr11:107047494-107047544	HUVEC	blood vessel:	n/a
5	chr11:107047888-107047938	K562	blood:	n/a
6	chr11:107048184-107048234	Hela-S3	cervix:	n/a
7	chr11:107047494-107047544	HRPEpiC	eye:	n/a
8	chr11:107048184-107048234	HRE	kidney:	n/a
9	chr11:107047494-107047544	ovcar-3	ovarian:	n/a
10	chr11:107047888-107047938	HepG2	liver:	n/a
11	chr11:107047494-107047544	K562	blood:	n/a
12	chr11:107047494-107047544	HL-60	blood:	n/a
13	chr11:107048184-107048234	NHBE	bronchial:	n/a
14	chr11:107047494-107047544	MCF-7	breast:	n/a
15	chr11:107047494-107047544	GM12891	blood:	n/a
16	chr11:107047888-107047938	AG09309	skin:	n/a
17	chr11:107047494-107047544	SK-N-MC	brain:	n/a
18	chr11:107048184-107048234	ProgFib	skin:	n/a
19	chr11:107048184-107048234	NT2-D1	testis:	n/a
20	chr11:107048184-107048234	NH-A	brain:	n/a
21	chr11:107047888-107047938	SK-N-SH_RA	brain:	n/a
22	chr11:107048184-107048234	NB4	blood:	n/a
23	chr11:107047494-107047544	SKMC	muscle:	n/a
24	chr11:107047494-107047544	AG09309	skin:	n/a
25	chr11:107047888-107047938	AG04450	lung:	fetal
26	chr11:107048184-107048234	AG09319	gingival:	n/a
27	chr11:107047494-107047544	HMEC	breast:	n/a
28	chr11:107047888-107047938	HL-60	blood:	n/a
29	chr11:107047888-107047938	HCT-116	colon:	n/a
30	chr11:107047888-107047938	GM12878	blood:	n/a
31	chr11:107047494-107047544	PANC-1	pancreas:	n/a
32	chr11:107047888-107047938	SKMC	muscle:	n/a
33	chr11:107048184-107048234	PANC-1	pancreas:	n/a
34	chr11:107047888-107047938	NH-A	brain:	n/a
35	chr11:107047888-107047938	HIPEpiC	eye:	n/a
36	chr11:107047888-107047938	GM19239	blood:	n/a
37	chr11:107048184-107048234	HCT-116	colon:	n/a
38	chr11:107047494-107047544	AG04450	lung:	fetal
39	chr11:107047494-107047544	SAEC	small airway:	n/a
40	chr11:107048184-107048234	SKMC	muscle:	n/a
41	chr11:107047888-107047938	NT2-D1	testis:	n/a
42	chr11:107047494-107047544	PrEC	prostate:	n/a
43	chr11:107047888-107047938	Hepatocyte	liver:	n/a
44	chr11:107048184-107048234	HEEpiC	esophagus:	n/a
45	chr11:107048184-107048234	AG04449	skin:	fetal
46	chr11:107047888-107047938	SAEC	small airway:	n/a
47	chr11:107047494-107047544	GM12892	blood:	n/a
48	chr11:107047888-107047938	HRPEpiC	eye:	n/a
49	chr11:107047494-107047544	H1-hESC	embryonic stem cell:	embryo
50	chr11:107047494-107047544	HepG2	liver:	n/a

No data

Variant related genes	Relation type
ENSG00000255353	TF binding region
ENSG00000255353	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56188450	chr11:107046989-107046990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533337889	chr11:107047004-107047005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534417731	chr11:107047005-107047006	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186783041	chr11:107047009-107047010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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