Variant report

Variant	nsv970800
Chromosome Location	chr7:21440556-21446737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:21442394-21442510	GM20000	blood:	n/a	n/a
2	GATA3	chr7:21440117-21440775	MCF-7	breast:	n/a	n/a
3	GATA3	chr7:21440203-21440770	MCF-7	breast:	n/a	n/a
4	KAP1	chr7:21443301-21443589	HEK293	kidney:	n/a	n/a
5	POLR2A	chr7:21440592-21440732	ProgFib	skin:	n/a	n/a
6	RCOR1	chr7:21442063-21442268	K562	blood:	n/a	n/a
7	ZNF384	chr7:21446698-21446707	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21442032..21444961-chr7:21451178..21453639,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDCA7L-3	chr7:21440538-21440763	NONHSAT119444
2	lnc-CDCA7L-3	chr7:21441090-21441231	NONHSAT119444

No data

Variant related genes	Relation type
ENSG00000229949	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529552741	chr7:21440582-21440583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs549218216	chr7:21440586-21440587	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs75769915	chr7:21440627-21440628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs530389453	chr7:21440636-21440637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550143663	chr7:21440652-21440653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs182284657	chr7:21440668-21440669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs567765964	chr7:21440673-21440674	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs139178185	chr7:21440689-21440690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs79550676	chr7:21440713-21440714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs149931451	chr7:21440726-21440727	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535773618	chr7:21440741-21440742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555667739	chr7:21440755-21440756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs143088084	chr7:21440756-21440757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573441349	chr7:21440757-21440758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs71023498	chr7:21440760-21440761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs576643670	chr7:21440762-21440763	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs570415936	chr7:21441091-21441092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532892282	chr7:21441105-21441106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546649537	chr7:21441205-21441206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs566690868	chr7:21441218-21441219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs369327864	chr7:21442069-21442070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs550864841	chr7:21442082-21442083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs553998031	chr7:21442088-21442089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368323815	chr7:21442098-21442099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183944964	chr7:21442115-21442116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570819731	chr7:21442129-21442130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533465040	chr7:21442134-21442135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531500054	chr7:21442140-21442141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs141990565	chr7:21442148-21442149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571545724	chr7:21442182-21442183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs150248818	chr7:21442197-21442198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138883038	chr7:21442198-21442199	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs567279584	chr7:21442206-21442207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs536346821	chr7:21442208-21442209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs386711094	chr7:21442219-21442220	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2079491	chr7:21442220-21442221	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11983219	chr7:21442234-21442235	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542759584	chr7:21442424-21442425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549093584	chr7:21442437-21442438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs182132887	chr7:21442460-21442461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs147165036	chr7:21442477-21442478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535266762	chr7:21443311-21443312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs150991538	chr7:21443320-21443321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs568815735	chr7:21443321-21443322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537729971	chr7:21443402-21443403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs201865206	chr7:21443421-21443422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185769400	chr7:21443440-21443441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528725881	chr7:21443479-21443480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs74700449	chr7:21443483-21443484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs114779293	chr7:21443484-21443485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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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