Variant report

Variant	nsv981485
Chromosome Location	chr7:57273446-57316721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:57293110-57293401	GM12878	blood:	n/a	n/a
2	CTCF	chr7:57293323-57293428	Lung_OC	lung:	n/a	chr7:57293390-57293398
3	CTCF	chr7:57309952-57310000	LNCaP	prostate:	n/a	n/a
4	CTCF	chr7:57294240-57294284	Medullo	brain:	n/a	n/a
5	CTCF	chr7:57280386-57280424	GM10248	blood:	n/a	n/a
6	CTCF	chr7:57282660-57282720	Spleen_OC	spleen:	n/a	n/a
7	E2F4	chr7:57316550-57316681	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr7:57284704-57285000	GM12878	blood:	n/a	n/a
9	FOSL2	chr7:57276426-57276944	HepG2	liver:	n/a	n/a
10	FOSL2	chr7:57284679-57285145	HepG2	liver:	n/a	n/a
11	FOSL2	chr7:57315497-57315746	HepG2	liver:	n/a	n/a
12	FOSL2	chr7:57282454-57282735	HepG2	liver:	n/a	n/a
13	FOSL2	chr7:57284070-57284607	HepG2	liver:	n/a	n/a
14	FOSL2	chr7:57276403-57276908	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:57276489-57276902	HepG2	liver:	n/a	n/a
16	GABPA	chr7:57284681-57285121	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr7:57284386-57284677	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr7:57284756-57285054	Hela-S3	cervix:	n/a	n/a
19	IRF4	chr7:57284717-57285050	GM12878	blood:	n/a	n/a
20	JUND	chr7:57284415-57284518	HepG2	liver:	n/a	n/a
21	JUND	chr7:57306188-57306349	HepG2	liver:	n/a	chr7:57306292-57306304 chr7:57306295-57306302 chr7:57306290-57306301 chr7:57306294-57306303 chr7:57306292-57306303 chr7:57306294-57306302 chr7:57306293-57306303 chr7:57306292-57306299
22	JUND	chr7:57276434-57276894	HepG2	liver:	n/a	n/a
23	JUND	chr7:57276516-57276823	HepG2	liver:	n/a	n/a
24	JUND	chr7:57315483-57315707	HepG2	liver:	n/a	n/a
25	JUND	chr7:57312225-57312413	HepG2	liver:	n/a	chr7:57312317-57312327 chr7:57312318-57312327 chr7:57312317-57312326 chr7:57312316-57312328
26	JUND	chr7:57284811-57284927	HepG2	liver:	n/a	n/a
27	MAFK	chr7:57282203-57282253	HepG2	liver:	n/a	chr7:57282212-57282232 chr7:57282215-57282229 chr7:57282211-57282227
28	MAX	chr7:57306765-57306775	HepG2	liver:	n/a	n/a
29	MAX	chr7:57306671-57306723	NB4	blood:	n/a	n/a
30	MYC	chr7:57287588-57287601	GM12878	blood:	n/a	n/a
31	MYC	chr7:57312274-57312279	MCF-7	breast:	n/a	n/a
32	MYC	chr7:57312222-57312489	MCF-7	breast:	n/a	chr7:57312317-57312326
33	MYC	chr7:57287612-57287629	GM12878	blood:	n/a	n/a
34	MYC	chr7:57307462-57307478	MCF-7	breast:	n/a	n/a
35	MYC	chr7:57305438-57305481	MCF-7	breast:	n/a	n/a
36	MYC	chr7:57296393-57296487	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr7:57312206-57312342	MCF-7	breast:	n/a	chr7:57312317-57312326
38	MYC	chr7:57312153-57312186	MCF-7	breast:	n/a	n/a
39	MYC	chr7:57284349-57284461	K562	blood:	n/a	n/a
40	PAX5	chr7:57284694-57285017	GM12878	blood:	n/a	n/a
41	PAX5	chr7:57284702-57285072	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:57313146-57313315	MCF-7	breast:	n/a	n/a
43	POLR2A	chr7:57299647-57299722	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:57298407-57298427	MCF-7	breast:	n/a	n/a
45	POLR2A	chr7:57305539-57305689	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:57312191-57312481	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:57307475-57307481	MCF-7	breast:	n/a	n/a
48	POLR2A	chr7:57312227-57312295	MCF-7	breast:	n/a	n/a
49	POLR2A	chr7:57305387-57305504	MCF-7	breast:	n/a	n/a
50	POLR2A	chr7:57285045-57285059	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57273782-57273832	CMK	blood:	n/a
2	chr7:57273782-57273832	H1-hESC	embryonic stem cell:	embryo
3	chr7:57273782-57273832	HRCEpiC	kidney:	n/a
4	chr7:57273782-57273832	HepG2	liver:	n/a
5	chr7:57273782-57273832	ECC-1	luminal epithelium:	n/a
6	chr7:57273782-57273832	HNPCEpiC	eye:	n/a
7	chr7:57273782-57273832	MCF10A-Er-Src	breast:	n/a
8	chr7:57273782-57273832	NB4	blood:	n/a
9	chr7:57273782-57273832	HCF	heart:	n/a
10	chr7:57273782-57273832	NT2-D1	testis:	n/a
11	chr7:57273782-57273832	BE2_C	brain:	n/a
12	chr7:57273782-57273832	HIPEpiC	eye:	n/a
13	chr7:57273782-57273832	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:57273782-57273832	LNCaP	prostate:	n/a
15	chr7:57273782-57273832	HAEpiC	amniotic membrane:	n/a
16	chr7:57273782-57273832	A549	lung:	n/a
17	chr7:57273782-57273832	SKMC	muscle:	n/a
18	chr7:57273782-57273832	HUVEC	blood vessel:	n/a
19	chr7:57273782-57273832	GM19239	blood:	n/a
20	chr7:57273782-57273832	HEK293	kidney:	embryo
21	chr7:57273782-57273832	AoSMC	blood vessel:	n/a
22	chr7:57273782-57273832	HRE	kidney:	n/a
23	chr7:57273782-57273832	SK-N-SH_RA	brain:	n/a
24	chr7:57273782-57273832	GM12878	blood:	n/a
25	chr7:57273782-57273832	HMEC	breast:	n/a
26	chr7:57273782-57273832	HCPEpiC	choroid plexus:	n/a
27	chr7:57273782-57273832	HL-60	blood:	n/a
28	chr7:57273782-57273832	Hepatocyte	liver:	n/a
29	chr7:57273782-57273832	SK-N-MC	brain:	n/a
30	chr7:57273782-57273832	GM12891	blood:	n/a
31	chr7:57273782-57273832	NHBE	bronchial:	n/a
32	chr7:57273782-57273832	AG10803	skin:	n/a
33	chr7:57273782-57273832	AG09309	skin:	n/a
34	chr7:57273782-57273832	Hela-S3	cervix:	n/a
35	chr7:57273782-57273832	T-47D	breast:	n/a
36	chr7:57273782-57273832	AG04450	lung:	fetal
37	chr7:57273782-57273832	ProgFib	skin:	n/a
38	chr7:57273782-57273832	SAEC	small airway:	n/a
39	chr7:57273782-57273832	IMR90	lung:	fetal
40	chr7:57273782-57273832	NH-A	brain:	n/a
41	chr7:57273782-57273832	Caco-2	colon:	n/a
42	chr7:57273782-57273832	AG04449	skin:	fetal
43	chr7:57273782-57273832	PrEC	prostate:	n/a
44	chr7:57273782-57273832	GM06990	blood:	n/a
45	chr7:57273782-57273832	SK-N-SH	brain:	n/a
46	chr7:57273782-57273832	RPTEC	kidney:	n/a
47	chr7:57273782-57273832	GM12892	blood:	n/a
48	chr7:57273782-57273832	K562	blood:	n/a
49	chr7:57273782-57273832	ovcar-3	ovarian:	n/a
50	chr7:57273782-57273832	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:47131270..47131959-chr7:57284082..57284602,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF479-1	chr7:57277572-57277842	ENSG00000234089
2	lnc-ZNF716-10	chr7:57285833-57285918	NONHSAT120826
3	lnc-ZNF716-10	chr7:57285590-57285649	NONHSAT120825
4	lnc-ZNF716-10	chr7:57284552-57284791	FPKM1_group_29782_transcript_2
5	lnc-ZNF479-1	chr7:57289731-57289866	ENSG00000234089
6	lnc-ZNF716-10	chr7:57285335-57285589	NONHSAT120826
7	lnc-ZNF716-10	chr7:57285590-57285595	FPKM1_group_29782_transcript_2
8	lnc-ZNF716-10	chr7:57284552-57284791	NONHSAT120825

No data

Variant related genes	Relation type
GUSBP12	TF binding region
ENSG00000234089	TF binding region
RNU7-157P	TF binding region
GUSBP12	CpG island
ENSG00000234089	CpG island
RNU7-157P	CpG island

Extended variants
information (count: 590 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187093630	chr7:57273447-57273448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551856914	chr7:57273521-57273522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570048748	chr7:57273569-57273570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191572317	chr7:57273626-57273627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549296368	chr7:57273662-57273663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567989824	chr7:57273668-57273669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535363740	chr7:57273669-57273670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs28374054	chr7:57273708-57273709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs145955054	chr7:57273726-57273727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187937775	chr7:57273731-57273732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs190859661	chr7:57273767-57273768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs182380597	chr7:57273776-57273777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575232103	chr7:57273793-57273794	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs542834040	chr7:57273814-57273815	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs554363960	chr7:57273844-57273845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs186652265	chr7:57273901-57273902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540145878	chr7:57273914-57273915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34962996	chr7:57273958-57273959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs13228389	chr7:57273960-57273961	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113973143	chr7:57274003-57274004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192975349	chr7:57274004-57274005	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs114045276	chr7:57274009-57274010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184652566	chr7:57274012-57274013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs188837412	chr7:57274093-57274094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561078968	chr7:57274094-57274095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs192882918	chr7:57274095-57274096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528658591	chr7:57274120-57274121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547362085	chr7:57274167-57274168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11971441	chr7:57274190-57274191	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538661691	chr7:57274227-57274228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs143305643	chr7:57274252-57274253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs145449724	chr7:57274253-57274254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148408925	chr7:57274289-57274290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551269597	chr7:57274367-57274368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554202679	chr7:57274384-57274385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184194933	chr7:57274386-57274387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200596256	chr7:57274606-57274607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144023146	chr7:57274613-57274614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372212120	chr7:57274615-57274616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375198569	chr7:57274616-57274617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549847017	chr7:57274654-57274655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575562616	chr7:57274697-57274698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11761664	chr7:57274730-57274731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11762996	chr7:57274749-57274750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11762998	chr7:57274756-57274757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202044570	chr7:57274800-57274801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13243166	chr7:57274804-57274805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565598293	chr7:57274855-57274856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532713937	chr7:57274928-57274929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150720362	chr7:57274975-57274976	Enhancers	n/a	n/a	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
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57267400-57274400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:57269400-57274000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:57274600-57275000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:57278800-57279800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr7:57283400-57285600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:57284200-57284600	ZNF genes & repeats	HepG2	liver
7	chr7:57284600-57286200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:57284800-57285200	ZNF genes & repeats	HepG2	liver
9	chr7:57286200-57286800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr7:57294200-57294400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr7:57295200-57296800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:57306400-57306800	ZNF genes & repeats	Fetal Kidney	kidney
13	chr7:57306600-57306800	ZNF genes & repeats	Pancreas	Pancrea
14	chr7:57310200-57313400	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr7:57314200-57315000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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