Variant report

Variant	nsv970844
Chromosome Location	chr7:57004618-57052837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57026724-57026810	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr7:57021831-57021861	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:57026156-57026242	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr7:57047345-57047417	GM10266	blood:	n/a	chr7:57047357-57047370
5	CTCF	chr7:57007800-57007950	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr7:57009046-57009106	GM10248	blood:	n/a	n/a
7	CTCF	chr7:57014694-57014859	Medullo	brain:	n/a	n/a
8	CTCF	chr7:57041022-57041039	LNCaP	prostate:	n/a	n/a
9	CTCF	chr7:57025468-57025508	GM13976	blood:	n/a	n/a
10	CTCF	chr7:57033177-57033221	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr7:57026821-57026885	Lung_OC	lung:	n/a	n/a
12	CTCF	chr7:57048077-57048116	GM20000	blood:	n/a	n/a
13	CTCF	chr7:57007487-57007528	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr7:57029197-57029205	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr7:57029207-57029260	Kidney_OC	kidney:	n/a	n/a
16	FOXA1	chr7:57042463-57043047	HepG2	liver:	n/a	n/a
17	FOXA1	chr7:57015204-57015480	HepG2	liver:	n/a	n/a
18	HEY1	chr7:57016756-57017011	HepG2	liver:	n/a	n/a
19	MYC	chr7:57015039-57015174	MCF-7	breast:	n/a	n/a
20	MYC	chr7:57009178-57009244	MCF-7	breast:	n/a	n/a
21	MYC	chr7:57040330-57040369	GM12878	blood:	n/a	n/a
22	MYC	chr7:57009090-57009184	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:57009107-57009184	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:57008567-57008634	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:57032249-57032396	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:57035430-57035471	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:57016752-57017043	A549	lung:	n/a	n/a
28	POLR2A	chr7:57037394-57037428	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:57016870-57016980	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:57016834-57017008	A549	lung:	n/a	n/a
31	POLR2A	chr7:57009044-57009226	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:57016867-57017013	A549	lung:	n/a	n/a
33	POLR2A	chr7:57016870-57016981	A549	lung:	n/a	n/a
34	REST	chr7:57024695-57024948	SK-N-SH	brain:	n/a	n/a
35	REST	chr7:57023981-57024381	SK-N-SH	brain:	n/a	n/a
36	RXRA	chr7:57042569-57042945	HepG2	liver:	n/a	n/a
37	SP1	chr7:57042618-57043058	HepG2	liver:	n/a	n/a
38	SP1	chr7:57015211-57015638	HepG2	liver:	n/a	chr7:57015266-57015276 chr7:57015267-57015276
39	TCF12	chr7:57042614-57042872	HepG2	liver:	n/a	n/a
40	USF1	chr7:57052700-57052879	HepG2	liver:	n/a	n/a
41	USF1	chr7:57034521-57034623	HepG2	liver:	n/a	chr7:57034573-57034584

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57017956-57018006	IMR90	lung:	fetal
2	chr7:57016153-57016203	NT2-D1	testis:	n/a
3	chr7:57016153-57016203	HEEpiC	esophagus:	n/a
4	chr7:57016153-57016203	MCF-7	breast:	n/a
5	chr7:57016153-57016203	GM12891	blood:	n/a
6	chr7:57016153-57016203	HUVEC	blood vessel:	n/a
7	chr7:57016153-57016203	GM19239	blood:	n/a
8	chr7:57017956-57018006	AG10803	skin:	n/a
9	chr7:57016153-57016203	ProgFib	skin:	n/a
10	chr7:57016153-57016203	K562	blood:	n/a
11	chr7:57017956-57018006	HEK293	kidney:	embryo
12	chr7:57017956-57018006	AG04450	lung:	fetal
13	chr7:57016153-57016203	Hela-S3	cervix:	n/a
14	chr7:57016153-57016203	Hepatocyte	liver:	n/a
15	chr7:57016153-57016203	AoSMC	blood vessel:	n/a
16	chr7:57017956-57018006	Hepatocyte	liver:	n/a
17	chr7:57016153-57016203	HRE	kidney:	n/a
18	chr7:57016153-57016203	NH-A	brain:	n/a
19	chr7:57016153-57016203	HEK293	kidney:	embryo
20	chr7:57017956-57018006	HRCEpiC	kidney:	n/a
21	chr7:57017956-57018006	BJ	skin:	n/a
22	chr7:57016153-57016203	HIPEpiC	eye:	n/a
23	chr7:57017956-57018006	PrEC	prostate:	n/a
24	chr7:57017956-57018006	HRPEpiC	eye:	n/a
25	chr7:57016153-57016203	NHBE	bronchial:	n/a
26	chr7:57017956-57018006	NHBE	bronchial:	n/a
27	chr7:57016153-57016203	AG09319	gingival:	n/a
28	chr7:57016153-57016203	HAEpiC	amniotic membrane:	n/a
29	chr7:57016153-57016203	GM06990	blood:	n/a
30	chr7:57017956-57018006	GM12891	blood:	n/a
31	chr7:57016153-57016203	BE2_C	brain:	n/a
32	chr7:57017956-57018006	GM19239	blood:	n/a
33	chr7:57017956-57018006	T-47D	breast:	n/a
34	chr7:57017956-57018006	HRE	kidney:	n/a
35	chr7:57017956-57018006	NHDF-neo	bronchial:	n/a
36	chr7:57016153-57016203	H1-hESC	embryonic stem cell:	embryo
37	chr7:57017956-57018006	AoSMC	blood vessel:	n/a
38	chr7:57016153-57016203	HCT-116	colon:	n/a
39	chr7:57017956-57018006	PFSK-1	brain:	n/a
40	chr7:57017956-57018006	HCF	heart:	n/a
41	chr7:57016153-57016203	CMK	blood:	n/a
42	chr7:57017956-57018006	Hela-S3	cervix:	n/a
43	chr7:57016153-57016203	AG09309	skin:	n/a
44	chr7:57016153-57016203	SK-N-SH_RA	brain:	n/a
45	chr7:57016153-57016203	GM12892	blood:	n/a
46	chr7:57016153-57016203	HCF	heart:	n/a
47	chr7:57017956-57018006	SK-N-MC	brain:	n/a
48	chr7:57017956-57018006	HMEC	breast:	n/a
49	chr7:57016153-57016203	PANC-1	pancreas:	n/a
50	chr7:57016153-57016203	MCF10A-Er-Src	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-25	chr7:57032955-57033214	NONHSAT120806

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4283	chr7:57023545-57023561	MIMAT0016914

No data

Variant related genes	Relation type
RN7SL816P	TF binding region
ENSG00000225244	TF binding region
MIR4283-1	TF binding region
RN7SL816P	CpG island
ENSG00000225244	CpG island
MIR4283-1	CpG island

Extended variants
information (count: 53 )
Associated
traits (count: 84 )

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	rs1258516	chr7:57014439-57014440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs71279019	chr7:57014705-57014706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62460992	chr7:57014797-57014798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370558878	chr7:57015052-57015053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs62460993	chr7:57015053-57015054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs62461003	chr7:57015134-57015135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567633293	chr7:57015236-57015237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535122834	chr7:57015237-57015238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553460792	chr7:57015239-57015240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs578144573	chr7:57015240-57015241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs373575300	chr7:57015261-57015262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568194750	chr7:57015263-57015264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539266882	chr7:57015268-57015269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200380216	chr7:57015330-57015331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs557517717	chr7:57015339-57015340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575865319	chr7:57015398-57015399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs140337599	chr7:57015428-57015429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200553164	chr7:57015508-57015509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375862245	chr7:57015509-57015510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs371672957	chr7:57015536-57015537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs189304959	chr7:57015623-57015624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs560725838	chr7:57015632-57015633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs188235063	chr7:57016153-57016154	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs147567136	chr7:57016183-57016184	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs113190187	chr7:57016960-57016961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185209155	chr7:57016989-57016990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189601686	chr7:57017040-57017041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141658614	chr7:57024012-57024013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs564496701	chr7:57024022-57024023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs532037215	chr7:57024046-57024047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113842021	chr7:57024049-57024050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375138574	chr7:57024322-57024323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369429190	chr7:57024329-57024330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs372295657	chr7:57024341-57024342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs186525421	chr7:57024739-57024740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539504705	chr7:57024760-57024761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555412987	chr7:57025478-57025479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs872065	chr7:57025479-57025480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573591564	chr7:57025490-57025491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs569722593	chr7:57026830-57026831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs150602036	chr7:57026866-57026867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs116844631	chr7:57026870-57026871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs59990275	chr7:57029200-57029201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs59212716	chr7:57029215-57029216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373239545	chr7:57032293-57032294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs560136029	chr7:57032306-57032307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376528629	chr7:57032322-57032323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs369513890	chr7:57032349-57032350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs533651779	chr7:57032354-57032355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544710909	chr7:57032383-57032384	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
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57014400-57014600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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