Variant report

Variant	nsv981476
Chromosome Location	chr7:56384536-56423910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:56392870-56393144	K562	blood:	n/a	n/a
2	ATF1	chr7:56396037-56396404	K562	blood:	n/a	n/a
3	BATF	chr7:56394887-56395134	GM12878	blood:	n/a	n/a
4	BHLHE40	chr7:56396053-56396246	K562	blood:	n/a	n/a
5	CTCF	chr7:56394940-56395090	GM12868	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
6	CTCF	chr7:56394900-56395050	HMF	breast:	n/a	n/a
7	CTCF	chr7:56394850-56395124	A549	lung:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
8	CTCF	chr7:56394800-56395090	A549	lung:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
9	CTCF	chr7:56394945-56395149	Hela-S3	cervix:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
10	CTCF	chr7:56394920-56395070	GM12871	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
11	CTCF	chr7:56394929-56395140	ProgFib	skin:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
12	CTCF	chr7:56394839-56395120	K562	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
13	CTCF	chr7:56394832-56395129	A549	lung:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
14	CTCF	chr7:56395000-56395150	NHEK	skin:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
15	CTCF	chr7:56394920-56395070	GM06990	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
16	CTCF	chr7:56394930-56395163	MCF-7	breast:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
17	CTCF	chr7:56396232-56396296	GM13976	blood:	n/a	n/a
18	CTCF	chr7:56394935-56395147	Kidney_OC	kidney:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
19	CTCF	chr7:56394960-56395110	GM12868	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
20	CTCF	chr7:56394831-56395146	A549	lung:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
21	CTCF	chr7:56394951-56395130	Lung_OC	lung:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
22	CTCF	chr7:56394930-56395159	NHEK	skin:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
23	CTCF	chr7:56395020-56395170	GM12864	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
24	CTCF	chr7:56394911-56395117	GM13977	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
25	CTCF	chr7:56394940-56395090	GM12870	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
26	CTCF	chr7:56394834-56395179	K562	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
27	CTCF	chr7:56394960-56395110	GM12869	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
28	CTCF	chr7:56395020-56395170	BE2_C	brain:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
29	CTCF	chr7:56394913-56395163	MCF-7	breast:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
30	CTCF	chr7:56394960-56395110	RPTEC	kidney:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
31	CTCF	chr7:56394914-56395161	A549	lung:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
32	CTCF	chr7:56395000-56395150	GM12874	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
33	CTCF	chr7:56394960-56395110	GM12870	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
34	CTCF	chr7:56394920-56395070	Caco-2	colon:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
35	CTCF	chr7:56394940-56395090	GM12865	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
36	CTCF	chr7:56395004-56395075	SK-N-SH_RA	brain:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
37	CTCF	chr7:56394940-56395076	GM10266	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
38	CTCF	chr7:56394920-56395070	GM12865	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
39	CTCF	chr7:56394880-56395030	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr7:56394920-56395070	GM12878	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
41	CTCF	chr7:56398805-56398873	LNCaP	prostate:	n/a	n/a
42	CTCF	chr7:56394920-56395070	MCF-7	breast:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
43	CTCF	chr7:56394936-56395146	GM19239	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
44	CTCF	chr7:56394924-56395155	GM19240	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
45	CTCF	chr7:56420612-56420683	GM13976	blood:	n/a	n/a
46	CTCF	chr7:56394940-56395090	GM12872	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
47	CTCF	chr7:56394940-56395090	HCT-116	colon:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
48	CTCF	chr7:56395000-56395150	GM12872	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
49	CTCF	chr7:56394919-56395154	GM12892	blood:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052
50	CTCF	chr7:56394957-56395141	H1-hESC	embryonic stem cell:	n/a	chr7:56395038-56395054 chr7:56395037-56395055 chr7:56395042-56395052

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56419094-56419144	AG04449	skin:	fetal
2	chr7:56419094-56419144	HepG2	liver:	n/a
3	chr7:56419094-56419144	ProgFib	skin:	n/a
4	chr7:56419094-56419144	GM12891	blood:	n/a
5	chr7:56419094-56419144	NB4	blood:	n/a
6	chr7:56419094-56419144	GM06990	blood:	n/a
7	chr7:56419094-56419144	SK-N-SH	brain:	n/a
8	chr7:56419094-56419144	HRCEpiC	kidney:	n/a
9	chr7:56419094-56419144	AG09319	gingival:	n/a
10	chr7:56419094-56419144	HL-60	blood:	n/a
11	chr7:56419094-56419144	RPTEC	kidney:	n/a
12	chr7:56419094-56419144	Jurkat	blood:	n/a
13	chr7:56419094-56419144	HEEpiC	esophagus:	n/a
14	chr7:56419094-56419144	MCF-7	breast:	n/a
15	chr7:56419094-56419144	K562	blood:	n/a
16	chr7:56419094-56419144	HMEC	breast:	n/a
17	chr7:56419094-56419144	HAEpiC	amniotic membrane:	n/a
18	chr7:56419094-56419144	A549	lung:	n/a
19	chr7:56419094-56419144	GM19239	blood:	n/a
20	chr7:56419094-56419144	NH-A	brain:	n/a
21	chr7:56419094-56419144	SK-N-SH_RA	brain:	n/a
22	chr7:56419094-56419144	NHBE	bronchial:	n/a
23	chr7:56419094-56419144	GM12878	blood:	n/a
24	chr7:56419094-56419144	AG09309	skin:	n/a
25	chr7:56419094-56419144	SKMC	muscle:	n/a
26	chr7:56419094-56419144	BJ	skin:	n/a
27	chr7:56419094-56419144	HIPEpiC	eye:	n/a
28	chr7:56419094-56419144	LNCaP	prostate:	n/a
29	chr7:56419094-56419144	IMR90	lung:	fetal
30	chr7:56419094-56419144	Hela-S3	cervix:	n/a
31	chr7:56419094-56419144	HCM	heart:	n/a
32	chr7:56419094-56419144	HUVEC	blood vessel:	n/a
33	chr7:56419094-56419144	AG04450	lung:	fetal
34	chr7:56419094-56419144	PFSK-1	brain:	n/a
35	chr7:56419094-56419144	SAEC	small airway:	n/a
36	chr7:56419094-56419144	AoSMC	blood vessel:	n/a
37	chr7:56419094-56419144	HRPEpiC	eye:	n/a
38	chr7:56419094-56419144	U87	brain:	n/a
39	chr7:56419094-56419144	HCT-116	colon:	n/a
40	chr7:56419094-56419144	MCF10A-Er-Src	breast:	n/a
41	chr7:56419094-56419144	CMK	blood:	n/a
42	chr7:56419094-56419144	HCF	heart:	n/a
43	chr7:56419094-56419144	PANC-1	pancreas:	n/a
44	chr7:56419094-56419144	ovcar-3	ovarian:	n/a
45	chr7:56419094-56419144	GM12892	blood:	n/a
46	chr7:56419094-56419144	HCPEpiC	choroid plexus:	n/a
47	chr7:56419094-56419144	NHDF-neo	bronchial:	n/a
48	chr7:56419094-56419144	SK-N-MC	brain:	n/a
49	chr7:56419094-56419144	NT2-D1	testis:	n/a
50	chr7:56419094-56419144	AG10803	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUMF2-11	chr7:56390497-56390549	NONHSAT120741
2	lnc-SUMF2-11	chr7:56391008-56391294	NONHSAT120741

Variant related genes	Relation type
ENSG00000203462	TF binding region
RNU6-1335P	TF binding region
ENSG00000203462	CpG island
RNU6-1335P	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578077887	chr7:56385895-56385896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs13243690	chr7:56387296-56387297	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191461957	chr7:56387301-56387302	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534631931	chr7:56387319-56387320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569354271	chr7:56387321-56387322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs530315638	chr7:56387366-56387367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs114228544	chr7:56387381-56387382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs570507450	chr7:56388853-56388854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537518253	chr7:56388868-56388869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556212870	chr7:56388874-56388875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10256351	chr7:56388881-56388882	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200334623	chr7:56388897-56388898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs180924135	chr7:56388901-56388902	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs185803093	chr7:56388916-56388917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs376618341	chr7:56388918-56388919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546354952	chr7:56388922-56388923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191483886	chr7:56388931-56388932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531848048	chr7:56388936-56388937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34049568	chr7:56388960-56388961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187509413	chr7:56390500-56390501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs4580997	chr7:56390503-56390504	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569994234	chr7:56390509-56390510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs537321633	chr7:56390515-56390516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs114898376	chr7:56391071-56391072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs532972066	chr7:56391081-56391082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs547995163	chr7:56391122-56391123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs551112645	chr7:56391151-56391152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs569277091	chr7:56391154-56391155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs568246538	chr7:56391161-56391162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs563246247	chr7:56391190-56391191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs530469007	chr7:56391201-56391202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs71563817	chr7:56391226-56391227	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs369956608	chr7:56391243-56391244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs142850443	chr7:56391246-56391247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs545683000	chr7:56391247-56391248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs71533255	chr7:56391262-56391263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs374048713	chr7:56391271-56391272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs111704462	chr7:56391272-56391273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs535705975	chr7:56409515-56409516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs189174664	chr7:56409524-56409525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs572264449	chr7:56409528-56409529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs545608268	chr7:56409572-56409573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs142152708	chr7:56409607-56409608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs576028928	chr7:56409622-56409623	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

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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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