Variant report

Variant	nsv967478
Chromosome Location	chr7:56291942-56308278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:549)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:56307103-56307194	A549	lung:	n/a	chr7:56307153-56307166 chr7:56307153-56307164
2	CTCF	chr7:56292448-56292492	GM10248	blood:	n/a	n/a
3	EP300	chr7:56293866-56293922	K562	blood:	n/a	n/a
4	FOXA1	chr7:56306155-56306515	T-47D	breast:	n/a	n/a
5	GATA3	chr7:56306179-56306511	T-47D	breast:	n/a	chr7:56306209-56306216 chr7:56306209-56306216 chr7:56306209-56306216
6	MAFK	chr7:56300579-56300714	HepG2	liver:	n/a	n/a
7	MAZ	chr7:56297474-56297604	K562	blood:	n/a	n/a
8	PBX3	chr7:56305247-56305366	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:56295919-56295968	MCF10A-Er-Src	breast:	n/a	n/a
10	RFX5	chr7:56300960-56301229	K562	blood:	n/a	n/a
11	STAT3	chr7:56292682-56292858	MCF10A-Er-Src	breast:	n/a	n/a
12	UBTF	chr7:56297443-56297727	K562	blood:	n/a	n/a
13	UBTF	chr7:56297406-56297648	K562	blood:	n/a	n/a
14	YY1	chr7:56297191-56297396	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56297564-56297614	GM12891	blood:	n/a
2	chr7:56297714-56297764	HL-60	blood:	n/a
3	chr7:56297490-56297540	GM12878	blood:	n/a
4	chr7:56297579-56297629	HCPEpiC	choroid plexus:	n/a
5	chr7:56297661-56297711	K562	blood:	n/a
6	chr7:56296570-56296620	A549	lung:	n/a
7	chr7:56296973-56297023	NH-A	brain:	n/a
8	chr7:56296570-56296620	NHBE	bronchial:	n/a
9	chr7:56301065-56301115	RPTEC	kidney:	n/a
10	chr7:56301065-56301115	AoSMC	blood vessel:	n/a
11	chr7:56297661-56297711	LNCaP	prostate:	n/a
12	chr7:56301065-56301115	AG09319	gingival:	n/a
13	chr7:56295392-56295442	GM19239	blood:	n/a
14	chr7:56296570-56296620	ECC-1	luminal epithelium:	n/a
15	chr7:56297564-56297614	GM12878	blood:	n/a
16	chr7:56297661-56297711	MCF-7	breast:	n/a
17	chr7:56297714-56297764	U87	brain:	n/a
18	chr7:56296570-56296620	HEK293	kidney:	embryo
19	chr7:56297714-56297764	HIPEpiC	eye:	n/a
20	chr7:56297564-56297614	PFSK-1	brain:	n/a
21	chr7:56297564-56297614	Caco-2	colon:	n/a
22	chr7:56296973-56297023	HEEpiC	esophagus:	n/a
23	chr7:56296570-56296620	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:56295392-56295442	MCF-7	breast:	n/a
25	chr7:56297661-56297711	ProgFib	skin:	n/a
26	chr7:56296570-56296620	U87	brain:	n/a
27	chr7:56297714-56297764	AG10803	skin:	n/a
28	chr7:56297564-56297614	NHBE	bronchial:	n/a
29	chr7:56297579-56297629	LNCaP	prostate:	n/a
30	chr7:56301065-56301115	LNCaP	prostate:	n/a
31	chr7:56297564-56297614	NH-A	brain:	n/a
32	chr7:56297661-56297711	HEK293	kidney:	embryo
33	chr7:56296973-56297023	NB4	blood:	n/a
34	chr7:56296973-56297023	Hepatocyte	liver:	n/a
35	chr7:56296570-56296620	HL-60	blood:	n/a
36	chr7:56297579-56297629	GM19239	blood:	n/a
37	chr7:56297714-56297764	ECC-1	luminal epithelium:	n/a
38	chr7:56295392-56295442	HUVEC	blood vessel:	n/a
39	chr7:56297490-56297540	AG09319	gingival:	n/a
40	chr7:56297490-56297540	HEEpiC	esophagus:	n/a
41	chr7:56295392-56295442	HRE	kidney:	n/a
42	chr7:56297579-56297629	Jurkat	blood:	n/a
43	chr7:56296570-56296620	AoSMC	blood vessel:	n/a
44	chr7:56296570-56296620	PFSK-1	brain:	n/a
45	chr7:56301065-56301115	HCT-116	colon:	n/a
46	chr7:56301065-56301115	HCF	heart:	n/a
47	chr7:56301065-56301115	AG04450	lung:	fetal
48	chr7:56297490-56297540	AG10803	skin:	n/a
49	chr7:56297714-56297764	HRE	kidney:	n/a
50	chr7:56296973-56297023	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:56171801..56173788-chr7:56307425..56310338,2	K562	blood:
2	chr7:56295830..56297823-chr7:56299936..56302375,3	K562	blood:
3	chr7:56173528..56175860-chr7:56295526..56297795,2	K562	blood:

No data

Variant related genes	Relation type
CCNJP1	TF binding region
CCNJP1	CpG island
ENSG00000106153	chromatin interactions
ENSG00000227491	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs554447487	chr7:56294665-56294666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546471478	chr7:56294668-56294669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1722283	chr7:56294691-56294692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187597786	chr7:56294712-56294713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116363945	chr7:56294727-56294728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191922025	chr7:56294728-56294729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576938597	chr7:56294766-56294767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11238399	chr7:56294789-56294790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375218333	chr7:56294824-56294825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529760114	chr7:56294827-56294828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112596375	chr7:56294866-56294867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199939623	chr7:56294909-56294910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78999581	chr7:56294918-56294919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143639334	chr7:56294997-56294998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10276175	chr7:56295094-56295095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529768363	chr7:56295141-56295142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62460096	chr7:56295160-56295161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534120856	chr7:56295546-56295547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558555609	chr7:56295562-56295563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs185055758	chr7:56295604-56295605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1640559	chr7:56295650-56295651	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1640560	chr7:56295662-56295663	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs578228932	chr7:56295710-56295711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574542075	chr7:56295718-56295719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541872362	chr7:56295722-56295723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560221917	chr7:56295742-56295743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571933942	chr7:56295772-56295773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147666754	chr7:56295782-56295783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs68159231	chr7:56295789-56295790	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6959641	chr7:56295790-56295791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200778669	chr7:56295796-56295797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201571743	chr7:56295797-56295798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200110201	chr7:56295798-56295799	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200718487	chr7:56295799-56295800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201830891	chr7:56295800-56295801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs72572256	chr7:56295801-56295802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113229804	chr7:56295802-56295803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577344265	chr7:56295822-56295823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531937635	chr7:56295825-56295826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373352182	chr7:56295886-56295887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs207467921	chr7:56295890-56295891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190111573	chr7:56295903-56295904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142388559	chr7:56295982-56295983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34720910	chr7:56295997-56295998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs398095105	chr7:56295999-56296000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369469368	chr7:56296000-56296001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386713581	chr7:56296037-56296038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1640561	chr7:56296038-56296039	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566558865	chr7:56296063-56296064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552489527	chr7:56296067-56296068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56294600-56295200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:56296400-56296800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:56296400-56296800	Enhancers	Gastric	stomach
4	chr7:56297200-56297400	Bivalent/Poised TSS	K562	blood
5	chr7:56297400-56297600	Active TSS	K562	blood
6	chr7:56297400-56297800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:56303200-56303400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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