Variant report

Variant	nsv818513
Chromosome Location	chr7:62827731-62838532
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	CEBPB	chr7:62833922-62834237	HepG2	liver:	n/a	chr7:62834069-62834080 chr7:62833977-62833988 chr7:62834068-62834081 chr7:62834070-62834079 chr7:62834068-62834079
2	CEBPB	chr7:62838327-62838602	HepG2	liver:	n/a	chr7:62838441-62838452
3	GATA3	chr7:62835566-62835772	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr7:62833837-62834152	SH-SY5Y	brain:	n/a	n/a
5	KAT2A	chr7:62833540-62833873	GM12878	blood:	n/a	n/a
6	MAFF	chr7:62837320-62837583	K562	blood:	n/a	chr7:62837451-62837469 chr7:62837429-62837447
7	MAFF	chr7:62837284-62837627	HepG2	liver:	n/a	chr7:62837451-62837469 chr7:62837429-62837447
8	MAFK	chr7:62837350-62837569	Hela-S3	cervix:	n/a	chr7:62837454-62837465 chr7:62837431-62837442 chr7:62837453-62837469 chr7:62837453-62837468 chr7:62837431-62837446 chr7:62837430-62837444 chr7:62837432-62837443 chr7:62837431-62837442 chr7:62837431-62837447 chr7:62837456-62837473
9	MAFK	chr7:62837362-62837567	K562	blood:	n/a	chr7:62837454-62837465 chr7:62837431-62837442 chr7:62837453-62837469 chr7:62837453-62837468 chr7:62837431-62837446 chr7:62837430-62837444 chr7:62837432-62837443 chr7:62837431-62837442 chr7:62837431-62837447 chr7:62837456-62837473
10	MAFK	chr7:62837307-62837617	HepG2	liver:	n/a	chr7:62837454-62837465 chr7:62837431-62837442 chr7:62837453-62837469 chr7:62837453-62837468 chr7:62837431-62837446 chr7:62837430-62837444 chr7:62837432-62837443 chr7:62837431-62837442 chr7:62837431-62837447 chr7:62837456-62837473
11	MAFK	chr7:62837279-62837633	HepG2	liver:	n/a	chr7:62837454-62837465 chr7:62837431-62837442 chr7:62837453-62837469 chr7:62837453-62837468 chr7:62837431-62837446 chr7:62837430-62837444 chr7:62837432-62837443 chr7:62837431-62837442 chr7:62837431-62837447 chr7:62837456-62837473
12	MAFK	chr7:62833434-62833665	HepG2	liver:	n/a	n/a
13	MAFK	chr7:62833478-62833715	HepG2	liver:	n/a	n/a
14	MAFK	chr7:62837310-62837623	IMR90	lung:	n/a	chr7:62837454-62837465 chr7:62837431-62837442 chr7:62837453-62837469 chr7:62837453-62837468 chr7:62837431-62837446 chr7:62837430-62837444 chr7:62837432-62837443 chr7:62837431-62837442 chr7:62837431-62837447 chr7:62837456-62837473
15	MAFK	chr7:62833915-62833917	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:62830539-62830616	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr7:62831843-62832043	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-2	chr7:62837707-62838611	NONHSAT120909
2	lnc-AC006455.1-2	chr7:62838106-62838187	NONHSAT120910
3	lnc-AC006455.1-2	chr7:62838321-62838411	NONHSAT120910
4	lnc-ZNF680-41	chr7:62827805-62828534	NONHSAT120908

Variant related genes	Relation type
VN1R32P	TF binding region
VN1R31P	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562932007	chr7:62827830-62827831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs140162704	chr7:62827912-62827913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542139124	chr7:62827948-62827949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs547809973	chr7:62827954-62827955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs150317032	chr7:62827966-62827967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546737656	chr7:62827998-62827999	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs566524009	chr7:62828030-62828031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs532214303	chr7:62828033-62828034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs138005289	chr7:62828041-62828042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs376101930	chr7:62828064-62828065	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538167970	chr7:62828075-62828076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs142527000	chr7:62828081-62828082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568138411	chr7:62828147-62828148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs533886727	chr7:62828148-62828149	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553859551	chr7:62828160-62828161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556009558	chr7:62828165-62828166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs28406246	chr7:62828172-62828173	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556746279	chr7:62828224-62828225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs536530031	chr7:62828256-62828257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374385050	chr7:62828261-62828262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs556844339	chr7:62828263-62828264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs576547519	chr7:62828266-62828267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542558242	chr7:62828366-62828367	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs576689784	chr7:62828367-62828368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs562337743	chr7:62828423-62828424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs529713423	chr7:62828432-62828433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs540192987	chr7:62828436-62828437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs560179178	chr7:62828468-62828469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs61478217	chr7:62828474-62828475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs113557250	chr7:62828475-62828476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs73350567	chr7:62828488-62828489	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551962781	chr7:62828514-62828515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs547440281	chr7:62828522-62828523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs370800790	chr7:62829013-62829014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559015910	chr7:62829025-62829026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541741563	chr7:62829061-62829062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560120401	chr7:62829097-62829098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184135097	chr7:62829107-62829108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545898404	chr7:62829108-62829109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146777678	chr7:62829125-62829126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73699271	chr7:62829271-62829272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs548023732	chr7:62829285-62829286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs561544338	chr7:62829305-62829306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547276786	chr7:62829319-62829320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570842849	chr7:62829320-62829321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139297176	chr7:62829354-62829355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs36064812	chr7:62829382-62829383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570009847	chr7:62829387-62829388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs376340377	chr7:62829403-62829404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535941385	chr7:62829410-62829411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62829000-62831200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:62836000-62838400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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