Variant report

Variant	nsv888234
Chromosome Location	chr7:62779097-62847852
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	CTCF	chr7:62795021-62795075	Medullo	brain:	n/a	n/a
4	CTCF	chr7:62823294-62823337	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr7:62785168-62785244	LNCaP	prostate:	n/a	n/a
6	CTCF	chr7:62845503-62845566	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:62821291-62821362	ProgFib	skin:	n/a	n/a
8	CTCF	chr7:62811395-62811459	GM20000	blood:	n/a	n/a
9	CTCF	chr7:62815299-62815346	GM20000	blood:	n/a	n/a
10	CTCF	chr7:62843083-62843110	GM13977	blood:	n/a	n/a
11	CTCF	chr7:62807622-62807700	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:62794591-62794619	Lung_OC	lung:	n/a	n/a
13	CTCF	chr7:62791054-62791114	Medullo	brain:	n/a	n/a
14	CTCF	chr7:62818117-62818214	LNCaP	prostate:	n/a	n/a
15	CTCF	chr7:62808915-62809017	GM20000	blood:	n/a	n/a
16	CTCF	chr7:62845172-62845381	Medullo	brain:	n/a	chr7:62845252-62845273
17	CTCF	chr7:62818811-62818868	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:62824296-62824327	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:62823479-62823699	Medullo	brain:	n/a	chr7:62823598-62823619
20	CTCF	chr7:62813803-62813865	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:62803249-62803281	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:62803385-62803413	GM13976	blood:	n/a	n/a
23	CTCF	chr7:62801899-62801954	GM13976	blood:	n/a	n/a
24	CTCF	chr7:62812050-62812075	LNCaP	prostate:	n/a	n/a
25	GATA3	chr7:62833837-62834152	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr7:62835566-62835772	SH-SY5Y	brain:	n/a	n/a
27	KAT2A	chr7:62833540-62833873	GM12878	blood:	n/a	n/a
28	MAFF	chr7:62837320-62837583	K562	blood:	n/a	chr7:62837451-62837469 chr7:62837429-62837447
29	MAFF	chr7:62837284-62837627	HepG2	liver:	n/a	chr7:62837451-62837469 chr7:62837429-62837447
30	MAFK	chr7:62833915-62833917	H1-hESC	embryonic stem cell:	n/a	n/a
31	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
32	MAFK	chr7:62833434-62833665	HepG2	liver:	n/a	n/a
33	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
34	MAFK	chr7:62833478-62833715	HepG2	liver:	n/a	n/a
35	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
36	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
37	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
38	MYC	chr7:62784018-62784028	MCF-7	breast:	n/a	n/a
39	MYC	chr7:62809338-62809416	MCF-7	breast:	n/a	n/a
40	MYC	chr7:62784002-62784017	MCF-7	breast:	n/a	n/a
41	MYC	chr7:62800788-62800789	MCF-7	breast:	n/a	n/a
42	MYC	chr7:62846082-62846092	MCF-7	breast:	n/a	n/a
43	MYC	chr7:62811293-62811308	HUVEC	blood vessel:	n/a	n/a
44	MYC	chr7:62806810-62806949	MCF-7	breast:	n/a	n/a
45	MYC	chr7:62800720-62800782	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:62824306-62824316	A549	lung:	n/a	n/a
47	POLR2A	chr7:62798529-62798710	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr7:62844548-62844561	A549	lung:	n/a	n/a
49	POLR2A	chr7:62807649-62807823	MCF-7	breast:	n/a	n/a
50	POLR2A	chr7:62809238-62809262	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62809620-62809670	HUVEC	blood vessel:	n/a
2	chr7:62809331-62809381	HL-60	blood:	n/a
3	chr7:62809331-62809381	HNPCEpiC	eye:	n/a
4	chr7:62809321-62809371	NT2-D1	testis:	n/a
5	chr7:62809321-62809371	GM12891	blood:	n/a
6	chr7:62809321-62809371	GM19239	blood:	n/a
7	chr7:62809331-62809381	HCM	heart:	n/a
8	chr7:62809373-62809423	HL-60	blood:	n/a
9	chr7:62809620-62809670	PANC-1	pancreas:	n/a
10	chr7:62809321-62809371	ECC-1	luminal epithelium:	n/a
11	chr7:62809373-62809423	Jurkat	blood:	n/a
12	chr7:62809373-62809423	GM06990	blood:	n/a
13	chr7:62809373-62809423	GM12878	blood:	n/a
14	chr7:62809620-62809670	HRCEpiC	kidney:	n/a
15	chr7:62809321-62809371	AG04449	skin:	fetal
16	chr7:62809321-62809371	HCT-116	colon:	n/a
17	chr7:62809331-62809381	Hela-S3	cervix:	n/a
18	chr7:62809331-62809381	SK-N-MC	brain:	n/a
19	chr7:62809321-62809371	PFSK-1	brain:	n/a
20	chr7:62809620-62809670	BE2_C	brain:	n/a
21	chr7:62809331-62809381	Hepatocyte	liver:	n/a
22	chr7:62809331-62809381	PFSK-1	brain:	n/a
23	chr7:62809373-62809423	K562	blood:	n/a
24	chr7:62809331-62809381	Jurkat	blood:	n/a
25	chr7:62809373-62809423	MCF10A-Er-Src	breast:	n/a
26	chr7:62809373-62809423	PANC-1	pancreas:	n/a
27	chr7:62809620-62809670	HEK293	kidney:	embryo
28	chr7:62809331-62809381	NHDF-neo	bronchial:	n/a
29	chr7:62809373-62809423	CMK	blood:	n/a
30	chr7:62809331-62809381	SAEC	small airway:	n/a
31	chr7:62809373-62809423	H1-hESC	embryonic stem cell:	embryo
32	chr7:62809321-62809371	HCPEpiC	choroid plexus:	n/a
33	chr7:62809331-62809381	IMR90	lung:	fetal
34	chr7:62809620-62809670	AG04450	lung:	fetal
35	chr7:62809620-62809670	HRE	kidney:	n/a
36	chr7:62809373-62809423	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:62809331-62809381	GM12878	blood:	n/a
38	chr7:62809373-62809423	HEEpiC	esophagus:	n/a
39	chr7:62809331-62809381	BJ	skin:	n/a
40	chr7:62809321-62809371	NHDF-neo	bronchial:	n/a
41	chr7:62809331-62809381	NB4	blood:	n/a
42	chr7:62809373-62809423	HCM	heart:	n/a
43	chr7:62809331-62809381	AG09309	skin:	n/a
44	chr7:62809373-62809423	AoSMC	blood vessel:	n/a
45	chr7:62809373-62809423	AG04450	lung:	fetal
46	chr7:62809373-62809423	AG09309	skin:	n/a
47	chr7:62809373-62809423	SAEC	small airway:	n/a
48	chr7:62809373-62809423	AG09319	gingival:	n/a
49	chr7:62809331-62809381	HRPEpiC	eye:	n/a
50	chr7:62809373-62809423	PrEC	prostate:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-2	chr7:62814835-62814953	ENSG00000229301
2	lnc-AC006455.1-2	chr7:62819441-62819684	ENSG00000229301
3	lnc-AC006455.1-2	chr7:62815523-62815687	ENSG00000229301
4	lnc-ZNF680-41	chr7:62827805-62828534	NONHSAT120908
5	lnc-AC006455.1-2	chr7:62814411-62814743	NONHSAT120906
6	lnc-ZNF680-8	chr7:62814625-62814704	ENSG00000226587.1
7	lnc-ZNF680-7	chr7:62840844-62841125	ENSG00000230600
8	lnc-ZNF680-7	chr7:62846111-62846167	ENSG00000230600
9	lnc-AC006455.1-2	chr7:62838321-62838411	NONHSAT120910
10	lnc-AC006455.1-2	chr7:62841163-62841193	NONHSAT120910
11	lnc-AC006455.1-2	chr7:62837707-62838611	NONHSAT120909
12	lnc-ZNF680-8	chr7:62787052-62787278	ENSG00000226587.1
13	lnc-AC006455.1-6	chr7:62803089-62803578	NONHSAT120902
14	lnc-ZNF680-8	chr7:62806338-62806547	ENSG00000226587.1
15	lnc-AC006455.1-2	chr7:62838106-62838187	NONHSAT120910

Variant related genes	Relation type
VN1R32P	TF binding region
ENSG00000230000	TF binding region
ENSG00000226587	TF binding region
ENSG00000230600	TF binding region
ENSG00000227545	TF binding region
ENSG00000229301	TF binding region
ENSG00000227923	TF binding region
ENSG00000227298	TF binding region
ENSG00000232165	TF binding region
VN1R31P	TF binding region
VN1R32P	CpG island
ENSG00000230000	CpG island
ENSG00000226587	CpG island
ENSG00000230600	CpG island
ENSG00000227545	CpG island
ENSG00000229301	CpG island
ENSG00000227923	CpG island
ENSG00000227298	CpG island
ENSG00000232165	CpG island
VN1R31P	CpG island

Extended variants
information (count: 246 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs62474330	chr7:62798688-62798689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1014138	chr7:62801924-62801925	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs799416	chr7:62803168-62803169	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs1860842	chr7:62803489-62803490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs1860843	chr7:62803527-62803528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs62474333	chr7:62806738-62806739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529212974	chr7:62808945-62808946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565349835	chr7:62809416-62809417	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs573765902	chr7:62809629-62809630	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs542960058	chr7:62809633-62809634	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs376531216	chr7:62809688-62809689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs528497830	chr7:62809694-62809695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs545384399	chr7:62809703-62809704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565275471	chr7:62809705-62809706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs62474335	chr7:62809706-62809707	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2241017	chr7:62809778-62809779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs546909030	chr7:62810030-62810031	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs2241018	chr7:62810031-62810032	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs534154409	chr7:62810072-62810073	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs562932007	chr7:62827830-62827831	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs140162704	chr7:62827912-62827913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs542139124	chr7:62827948-62827949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs547809973	chr7:62827954-62827955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs150317032	chr7:62827966-62827967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs546737656	chr7:62827998-62827999	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs566524009	chr7:62828030-62828031	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532214303	chr7:62828033-62828034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs138005289	chr7:62828041-62828042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs376101930	chr7:62828064-62828065	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs538167970	chr7:62828075-62828076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs142527000	chr7:62828081-62828082	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs568138411	chr7:62828147-62828148	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs533886727	chr7:62828148-62828149	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs553859551	chr7:62828160-62828161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs556009558	chr7:62828165-62828166	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs28406246	chr7:62828172-62828173	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556746279	chr7:62828224-62828225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs536530031	chr7:62828256-62828257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs374385050	chr7:62828261-62828262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs556844339	chr7:62828263-62828264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576547519	chr7:62828266-62828267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs542558242	chr7:62828366-62828367	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs576689784	chr7:62828367-62828368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs562337743	chr7:62828423-62828424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs529713423	chr7:62828432-62828433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540192987	chr7:62828436-62828437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560179178	chr7:62828468-62828469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs61478217	chr7:62828474-62828475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs113557250	chr7:62828475-62828476	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs73350567	chr7:62828488-62828489	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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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