Variant report

Variant	nsv981543
Chromosome Location	chr7:85010389-85012238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:185)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:85011227-85011369	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr7:85010758-85010762	MCF-7	breast:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:85010741-85010791	NH-A	brain:	n/a
2	chr7:85010676-85010726	HL-60	blood:	n/a
3	chr7:85010741-85010791	NH-A	brain:	n/a
4	chr7:85010676-85010726	HL-60	blood:	n/a
5	chr7:85010741-85010791	ovcar-3	ovarian:	n/a
6	chr7:85010741-85010791	HIPEpiC	eye:	n/a
7	chr7:85010774-85010824	ProgFib	skin:	n/a
8	chr7:85010741-85010791	HMEC	breast:	n/a
9	chr7:85010741-85010791	PFSK-1	brain:	n/a
10	chr7:85010774-85010824	HUVEC	blood vessel:	n/a
11	chr7:85010774-85010824	HRE	kidney:	n/a
12	chr7:85010676-85010726	HCM	heart:	n/a
13	chr7:85010741-85010791	HCPEpiC	choroid plexus:	n/a
14	chr7:85010676-85010726	NHBE	bronchial:	n/a
15	chr7:85010676-85010726	HEK293	kidney:	embryo
16	chr7:85010741-85010791	HNPCEpiC	eye:	n/a
17	chr7:85010774-85010824	GM12892	blood:	n/a
18	chr7:85010676-85010726	LNCaP	prostate:	n/a
19	chr7:85010774-85010824	NHBE	bronchial:	n/a
20	chr7:85010774-85010824	MCF10A-Er-Src	breast:	n/a
21	chr7:85010774-85010824	LNCaP	prostate:	n/a
22	chr7:85010774-85010824	ECC-1	luminal epithelium:	n/a
23	chr7:85010741-85010791	IMR90	lung:	fetal
24	chr7:85010774-85010824	A549	lung:	n/a
25	chr7:85010774-85010824	PANC-1	pancreas:	n/a
26	chr7:85010676-85010726	HIPEpiC	eye:	n/a
27	chr7:85010774-85010824	T-47D	breast:	n/a
28	chr7:85010741-85010791	NB4	blood:	n/a
29	chr7:85010741-85010791	HEK293	kidney:	embryo
30	chr7:85010774-85010824	PrEC	prostate:	n/a
31	chr7:85010676-85010726	GM06990	blood:	n/a
32	chr7:85010774-85010824	RPTEC	kidney:	n/a
33	chr7:85010774-85010824	K562	blood:	n/a
34	chr7:85010741-85010791	SAEC	small airway:	n/a
35	chr7:85010774-85010824	HRPEpiC	eye:	n/a
36	chr7:85010741-85010791	BE2_C	brain:	n/a
37	chr7:85010774-85010824	HAEpiC	amniotic membrane:	n/a
38	chr7:85010774-85010824	NT2-D1	testis:	n/a
39	chr7:85010774-85010824	BE2_C	brain:	n/a
40	chr7:85010774-85010824	GM06990	blood:	n/a
41	chr7:85010774-85010824	GM12878	blood:	n/a
42	chr7:85010676-85010726	BJ	skin:	n/a
43	chr7:85010741-85010791	HepG2	liver:	n/a
44	chr7:85010676-85010726	NB4	blood:	n/a
45	chr7:85010741-85010791	HCT-116	colon:	n/a
46	chr7:85010676-85010726	HMEC	breast:	n/a
47	chr7:85010676-85010726	SK-N-MC	brain:	n/a
48	chr7:85010741-85010791	AG04449	skin:	fetal
49	chr7:85010676-85010726	SKMC	muscle:	n/a
50	chr7:85010676-85010726	HCF	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000230614	TF binding region
ENSG00000230614	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191605476	chr7:85010716-85010717	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs564711183	chr7:85010741-85010742	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs10278317	chr7:85010747-85010748	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182876319	chr7:85010764-85010765	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs185441607	chr7:85010785-85010786	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs530084092	chr7:85010806-85010807	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs371452765	chr7:85010824-85010825	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs187733980	chr7:85011238-85011239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs538705947	chr7:85011239-85011240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558914742	chr7:85011298-85011299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572824369	chr7:85011306-85011307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links