Variant report

Variant	nsv970481
Chromosome Location	chr7:55791876-55816398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:411)
CpG islands
(count:794)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:55800487-55800499	K562	blood:	n/a	n/a
2	ATF1	chr7:55797922-55798229	K562	blood:	n/a	n/a
3	ATF3	chr7:55798768-55799118	K562	blood:	n/a	n/a
4	BACH1	chr7:55809638-55809751	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr7:55811971-55812164	GM12878	blood:	n/a	n/a
6	BATF	chr7:55811851-55812057	GM12878	blood:	n/a	n/a
7	BATF	chr7:55809246-55809419	GM12878	blood:	n/a	n/a
8	BATF	chr7:55810431-55810600	GM12878	blood:	n/a	n/a
9	BCL11A	chr7:55811867-55812100	GM12878	blood:	n/a	n/a
10	BCL11A	chr7:55809240-55809421	GM12878	blood:	n/a	chr7:55809309-55809322
11	BCL11A	chr7:55809118-55809327	GM12878	blood:	n/a	chr7:55809309-55809322
12	BCL11A	chr7:55811886-55812072	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:55810305-55810522	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:55811571-55811727	GM12878	blood:	n/a	n/a
15	BHLHE40	chr7:55811958-55812177	HepG2	liver:	n/a	n/a
16	BHLHE40	chr7:55806702-55806733	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:55798622-55798797	K562	blood:	n/a	n/a
18	CEBPB	chr7:55809734-55810013	K562	blood:	n/a	n/a
19	CEBPB	chr7:55798699-55798787	K562	blood:	n/a	n/a
20	CEBPB	chr7:55807053-55807253	HepG2	liver:	n/a	n/a
21	CEBPB	chr7:55798583-55798859	K562	blood:	n/a	n/a
22	CEBPB	chr7:55795321-55795465	HepG2	liver:	n/a	chr7:55795450-55795461
23	CEBPB	chr7:55809722-55809754	HepG2	liver:	n/a	n/a
24	CTCF	chr7:55812539-55812646	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr7:55810240-55810325	LNCaP	prostate:	n/a	chr7:55810278-55810296 chr7:55810281-55810294
26	CTCF	chr7:55814873-55815384	K562	blood:	n/a	chr7:55815289-55815307 chr7:55815035-55815045 chr7:55815033-55815046 chr7:55815030-55815048 chr7:55814974-55814987 chr7:55815033-55815042 chr7:55815032-55815053
27	CTCF	chr7:55794920-55795070	NHEK	skin:	n/a	n/a
28	CTCF	chr7:55804768-55804821	LNCaP	prostate:	n/a	n/a
29	CTCF	chr7:55812500-55812650	HepG2	liver:	n/a	n/a
30	CTCF	chr7:55794952-55795001	GM19239	blood:	n/a	n/a
31	CTCF	chr7:55810240-55810333	LNCaP	prostate:	n/a	chr7:55810278-55810296 chr7:55810281-55810294
32	CTCF	chr7:55810752-55811107	H1-hESC	embryonic stem cell:	n/a	chr7:55810917-55810935 chr7:55810774-55810787
33	CTCF	chr7:55812500-55812650	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr7:55812573-55812638	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr7:55807729-55808048	K562	blood:	n/a	chr7:55807914-55807927
36	CTCF	chr7:55794930-55795071	GM12878	blood:	n/a	n/a
37	CTCF	chr7:55808676-55808811	K562	blood:	n/a	n/a
38	CTCF	chr7:55812480-55812630	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr7:55795728-55795832	K562	blood:	n/a	n/a
40	CTCF	chr7:55795707-55795877	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:55809316-55809438	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr7:55810838-55810956	HepG2	liver:	n/a	chr7:55810917-55810935
43	CTCF	chr7:55794940-55795090	HMEC	breast:	n/a	n/a
44	CTCF	chr7:55794900-55795050	GM06990	blood:	n/a	n/a
45	CTCF	chr7:55794900-55795050	AG10803	skin:	n/a	n/a
46	CTCF	chr7:55795764-55795821	GM12878	blood:	n/a	n/a
47	CTCF	chr7:55810940-55811090	HepG2	liver:	n/a	n/a
48	CTCF	chr7:55810200-55810350	HMF	breast:	n/a	chr7:55810278-55810296 chr7:55810281-55810294
49	CTCF	chr7:55794900-55795050	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:55812557-55812689	LNCaP	prostate:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55808934-55808984	GM19239	blood:	n/a
2	chr7:55808934-55808984	GM19239	blood:	n/a
3	chr7:55809665-55809715	GM06990	blood:	n/a
4	chr7:55808878-55808928	HEK293	kidney:	embryo
5	chr7:55808934-55808984	AG04449	skin:	fetal
6	chr7:55808934-55808984	HEK293	kidney:	embryo
7	chr7:55807171-55807221	HRCEpiC	kidney:	n/a
8	chr7:55799845-55799895	GM12878	blood:	n/a
9	chr7:55807171-55807221	NB4	blood:	n/a
10	chr7:55809665-55809715	HL-60	blood:	n/a
11	chr7:55812396-55812446	HEK293	kidney:	embryo
12	chr7:55799829-55799879	HepG2	liver:	n/a
13	chr7:55808934-55808984	A549	lung:	n/a
14	chr7:55799845-55799895	SK-N-SH	brain:	n/a
15	chr7:55811507-55811557	HEEpiC	esophagus:	n/a
16	chr7:55807171-55807221	AG09319	gingival:	n/a
17	chr7:55799845-55799895	BE2_C	brain:	n/a
18	chr7:55808739-55808789	HAEpiC	amniotic membrane:	n/a
19	chr7:55799829-55799879	AoSMC	blood vessel:	n/a
20	chr7:55816154-55816204	HEK293	kidney:	embryo
21	chr7:55807171-55807221	HCF	heart:	n/a
22	chr7:55812396-55812446	H1-hESC	embryonic stem cell:	embryo
23	chr7:55810883-55810933	AG04450	lung:	fetal
24	chr7:55808878-55808928	HIPEpiC	eye:	n/a
25	chr7:55805069-55805119	AG04450	lung:	fetal
26	chr7:55805069-55805119	PrEC	prostate:	n/a
27	chr7:55807171-55807221	ECC-1	luminal epithelium:	n/a
28	chr7:55809665-55809715	HRCEpiC	kidney:	n/a
29	chr7:55816154-55816204	AG09319	gingival:	n/a
30	chr7:55809665-55809715	H1-hESC	embryonic stem cell:	embryo
31	chr7:55811507-55811557	ECC-1	luminal epithelium:	n/a
32	chr7:55810883-55810933	HEEpiC	esophagus:	n/a
33	chr7:55808878-55808928	HL-60	blood:	n/a
34	chr7:55808934-55808984	ovcar-3	ovarian:	n/a
35	chr7:55812396-55812446	AG04450	lung:	fetal
36	chr7:55809665-55809715	GM19239	blood:	n/a
37	chr7:55816154-55816204	SK-N-SH_RA	brain:	n/a
38	chr7:55799845-55799895	HAEpiC	amniotic membrane:	n/a
39	chr7:55808934-55808984	Caco-2	colon:	n/a
40	chr7:55809665-55809715	HUVEC	blood vessel:	n/a
41	chr7:55810883-55810933	U87	brain:	n/a
42	chr7:55810883-55810933	MCF-7	breast:	n/a
43	chr7:55812396-55812446	HUVEC	blood vessel:	n/a
44	chr7:55812396-55812446	GM06990	blood:	n/a
45	chr7:55808878-55808928	GM12891	blood:	n/a
46	chr7:55799845-55799895	U87	brain:	n/a
47	chr7:55808934-55808984	U87	brain:	n/a
48	chr7:55808739-55808789	GM12891	blood:	n/a
49	chr7:55810883-55810933	Hepatocyte	liver:	n/a
50	chr7:55809665-55809715	AG10803	skin:	n/a

No data

Variant related genes	Relation type
SUMO2P3	TF binding region
CICP11	TF binding region
SUMO2P3	CpG island
CICP11	CpG island

Extended variants
information (count: 774 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113000419	chr7:55791894-55791895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577691655	chr7:55791905-55791906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545004901	chr7:55791947-55791948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80262184	chr7:55791953-55791954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374096751	chr7:55791976-55791977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377383636	chr7:55791989-55791990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562811419	chr7:55794861-55794862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs529848338	chr7:55794884-55794885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs115320754	chr7:55794968-55794969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566431656	chr7:55794992-55794993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145199557	chr7:55795007-55795008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551725371	chr7:55795063-55795064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549861021	chr7:55795089-55795090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188059077	chr7:55795128-55795129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374870569	chr7:55795138-55795139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs147912910	chr7:55795149-55795150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377234847	chr7:55795319-55795320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147100576	chr7:55795454-55795455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558143807	chr7:55795459-55795460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs534928242	chr7:55795698-55795699	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369283492	chr7:55795724-55795725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs560314763	chr7:55795755-55795756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs192444242	chr7:55795775-55795776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs143547098	chr7:55795781-55795782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs563876589	chr7:55795785-55795786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs150262777	chr7:55795797-55795798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs137931695	chr7:55795816-55795817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111466479	chr7:55797975-55797976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
29	rs575825177	chr7:55798027-55798028	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs565887436	chr7:55798041-55798042	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573947596	chr7:55798063-55798064	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555419998	chr7:55798064-55798065	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs573691475	chr7:55798131-55798132	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540990502	chr7:55798242-55798243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141650403	chr7:55798253-55798254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537467439	chr7:55798275-55798276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370496960	chr7:55798283-55798284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10280445	chr7:55798357-55798358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs183124991	chr7:55798365-55798366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56291789	chr7:55798388-55798389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571311006	chr7:55798607-55798608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149999070	chr7:55798638-55798639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs187459341	chr7:55798658-55798659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs557628760	chr7:55798702-55798703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569643657	chr7:55798742-55798743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568399272	chr7:55798743-55798744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537235389	chr7:55798744-55798745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555290413	chr7:55798751-55798752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573655645	chr7:55798765-55798766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs534424290	chr7:55798800-55798801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Lung cancer	18438408	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	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
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55791400-55792000	Enhancers	Fetal Lung	lung
2	chr7:55791400-55792000	Enhancers	Fetal Stomach	stomach
3	chr7:55798000-55798400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:55800800-55801000	Enhancers	Fetal Kidney	kidney
5	chr7:55801200-55801600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:55801200-55802000	Enhancers	Fetal Brain Male	brain
7	chr7:55801400-55801800	Enhancers	Fetal Heart	heart
8	chr7:55801600-55801800	Enhancers	Fetal Kidney	kidney
9	chr7:55804400-55804600	Flanking Active TSS	HepG2	liver
10	chr7:55804600-55805200	Enhancers	HepG2	liver
11	chr7:55806800-55814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:55809400-55809600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:55809600-55810200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:55810200-55811000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:55811000-55811200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:55811000-55811200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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