Variant report

Variant	nsv971648
Chromosome Location	chr8:48043860-48068796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:48068712-48068795	K562	blood:	n/a	n/a
2	CEBPB	chr8:48068657-48068852	A549	lung:	n/a	n/a
3	CEBPB	chr8:48068594-48068897	HepG2	liver:	n/a	n/a
4	CEBPB	chr8:48055365-48055518	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:48068628-48068812	IMR90	lung:	n/a	n/a
6	CTCF	chr8:48053620-48053770	GM12865	blood:	n/a	n/a
7	CTCF	chr8:48053620-48053770	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:48053656-48053707	GM12891	blood:	n/a	n/a
9	CTCF	chr8:48053640-48053790	GM12873	blood:	n/a	n/a
10	CTCF	chr8:48053540-48053690	GM12872	blood:	n/a	n/a
11	CTCF	chr8:48053480-48053630	MCF-7	breast:	n/a	n/a
12	CTCF	chr8:48053632-48053706	MCF-7	breast:	n/a	n/a
13	CTCF	chr8:48053580-48053730	GM12867	blood:	n/a	n/a
14	CTCF	chr8:48053580-48053730	GM12873	blood:	n/a	n/a
15	CTCF	chr8:48053640-48053790	HCT-116	colon:	n/a	n/a
16	CTCF	chr8:48066253-48066266	GM13977	blood:	n/a	n/a
17	CTCF	chr8:48053660-48053810	GM06990	blood:	n/a	n/a
18	CTCF	chr8:48053540-48053690	K562	blood:	n/a	n/a
19	CTCF	chr8:48053640-48053790	HEK293	kidney:	n/a	n/a
20	CTCF	chr8:48053612-48053751	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:48053560-48053710	GM12866	blood:	n/a	n/a
22	CTCF	chr8:48066218-48066243	GM13977	blood:	n/a	n/a
23	CTCF	chr8:48053660-48053702	LNCaP	prostate:	n/a	n/a
24	CTCF	chr8:48053500-48053650	GM12864	blood:	n/a	n/a
25	CTCF	chr8:48053632-48053709	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:48053420-48053570	HCT-116	colon:	n/a	n/a
27	CTCF	chr8:48053540-48053690	GM12864	blood:	n/a	n/a
28	CTCF	chr8:48053580-48053730	GM12865	blood:	n/a	n/a
29	CTCF	chr8:48053580-48053730	GM12874	blood:	n/a	n/a
30	CTCF	chr8:48053520-48053670	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr8:48053620-48053770	HepG2	liver:	n/a	n/a
32	CTCF	chr8:48053610-48053765	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:48053634-48053716	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:48053600-48053750	GM12866	blood:	n/a	n/a
35	E2F4	chr8:48056437-48056570	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr8:48052923-48053276	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr8:48052963-48053261	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr8:48052972-48053188	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr8:48052947-48053263	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA2	chr8:48064578-48065041	A549	lung:	n/a	n/a
41	MAFF	chr8:48053073-48053166	K562	blood:	n/a	n/a
42	MAFK	chr8:48055171-48055417	HepG2	liver:	n/a	n/a
43	MAFK	chr8:48052972-48053131	K562	blood:	n/a	n/a
44	MAFK	chr8:48055234-48055301	HepG2	liver:	n/a	n/a
45	MYC	chr8:48044610-48044918	MCF-7	breast:	n/a	chr8:48044765-48044772 chr8:48044764-48044773
46	MYC	chr8:48044545-48044798	MCF-7	breast:	n/a	chr8:48044765-48044772 chr8:48044764-48044773
47	NR2F2	chr8:48049929-48050253	K562	blood:	n/a	n/a
48	NR2F2	chr8:48049966-48050351	K562	blood:	n/a	n/a
49	POLR2A	chr8:48044754-48044770	Gliobla	brain:	n/a	n/a
50	POLR2A	chr8:48044959-48045014	MCF-7	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48045001-48045051	HNPCEpiC	eye:	n/a
2	chr8:48044856-48044906	BJ	skin:	n/a
3	chr8:48049326-48049376	PFSK-1	brain:	n/a
4	chr8:48044856-48044906	Hela-S3	cervix:	n/a
5	chr8:48045001-48045051	HL-60	blood:	n/a
6	chr8:48049326-48049376	ECC-1	luminal epithelium:	n/a
7	chr8:48049326-48049376	H1-hESC	embryonic stem cell:	embryo
8	chr8:48045001-48045051	GM12891	blood:	n/a
9	chr8:48044856-48044906	GM12892	blood:	n/a
10	chr8:48045001-48045051	K562	blood:	n/a
11	chr8:48044616-48044666	HAEpiC	amniotic membrane:	n/a
12	chr8:48049326-48049376	GM12878	blood:	n/a
13	chr8:48049326-48049376	U87	brain:	n/a
14	chr8:48045001-48045051	HEEpiC	esophagus:	n/a
15	chr8:48044856-48044906	K562	blood:	n/a
16	chr8:48045001-48045051	GM12878	blood:	n/a
17	chr8:48045001-48045051	HRPEpiC	eye:	n/a
18	chr8:48044616-48044666	HPAEpiC	pulmonary alveolar:	n/a
19	chr8:48044616-48044666	GM12892	blood:	n/a
20	chr8:48049326-48049376	Jurkat	blood:	n/a
21	chr8:48045001-48045051	CMK	blood:	n/a
22	chr8:48044616-48044666	HNPCEpiC	eye:	n/a
23	chr8:48044856-48044906	HRPEpiC	eye:	n/a
24	chr8:48045001-48045051	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:48044616-48044666	HCPEpiC	choroid plexus:	n/a
26	chr8:48044856-48044906	AG04449	skin:	fetal
27	chr8:48044616-48044666	HUVEC	blood vessel:	n/a
28	chr8:48045001-48045051	GM19239	blood:	n/a
29	chr8:48044856-48044906	GM06990	blood:	n/a
30	chr8:48044856-48044906	HEEpiC	esophagus:	n/a
31	chr8:48049326-48049376	Hepatocyte	liver:	n/a
32	chr8:48045001-48045051	ProgFib	skin:	n/a
33	chr8:48049326-48049376	Hela-S3	cervix:	n/a
34	chr8:48044856-48044906	HCT-116	colon:	n/a
35	chr8:48049326-48049376	SK-N-SH	brain:	n/a
36	chr8:48044856-48044906	T-47D	breast:	n/a
37	chr8:48049326-48049376	SK-N-SH_RA	brain:	n/a
38	chr8:48044616-48044666	SAEC	small airway:	n/a
39	chr8:48045001-48045051	SKMC	muscle:	n/a
40	chr8:48049326-48049376	HEK293	kidney:	embryo
41	chr8:48049326-48049376	K562	blood:	n/a
42	chr8:48045001-48045051	AG04449	skin:	fetal
43	chr8:48045001-48045051	NB4	blood:	n/a
44	chr8:48044856-48044906	GM12891	blood:	n/a
45	chr8:48044856-48044906	CMK	blood:	n/a
46	chr8:48049326-48049376	SKMC	muscle:	n/a
47	chr8:48044856-48044906	HepG2	liver:	n/a
48	chr8:48044616-48044666	AG10803	skin:	n/a
49	chr8:48044856-48044906	HUVEC	blood vessel:	n/a
50	chr8:48044616-48044666	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71789873..71790710-chr8:48051511..48052153,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL10AP2	TF binding region
RNU6-819P	TF binding region
RPL10AP2	CpG island
RNU6-819P	CpG island

Extended variants
information (count: 734 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7003488	chr8:48043905-48043906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184460433	chr8:48043918-48043919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544316237	chr8:48043937-48043938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562378069	chr8:48043970-48043971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188818406	chr8:48044002-48044003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548231806	chr8:48044006-48044007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560158883	chr8:48044013-48044014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112515350	chr8:48044034-48044035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192591957	chr8:48044058-48044059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536788585	chr8:48044146-48044147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184573170	chr8:48044174-48044175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531413849	chr8:48044193-48044194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4615591	chr8:48044203-48044204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533635682	chr8:48044235-48044236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373149326	chr8:48044252-48044253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562432954	chr8:48044315-48044316	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs568035186	chr8:48044317-48044318	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535330471	chr8:48044330-48044331	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548846625	chr8:48044359-48044360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565968529	chr8:48044362-48044363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369461575	chr8:48044385-48044386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs539819104	chr8:48044402-48044403	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558010452	chr8:48044406-48044407	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576442388	chr8:48044508-48044509	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544034251	chr8:48044514-48044515	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373068613	chr8:48044584-48044585	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs111469332	chr8:48044591-48044592	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4873040	chr8:48044604-48044605	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112013721	chr8:48044619-48044620	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs11991395	chr8:48044655-48044656	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs574403762	chr8:48044663-48044664	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs188991699	chr8:48044687-48044688	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs559977656	chr8:48044695-48044696	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs113315596	chr8:48044711-48044712	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527335367	chr8:48044718-48044719	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs545740721	chr8:48044730-48044731	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs564027975	chr8:48044735-48044736	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs182431012	chr8:48044736-48044737	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546758198	chr8:48044743-48044744	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs549579417	chr8:48044763-48044764	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567947872	chr8:48044769-48044770	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs529031937	chr8:48044781-48044782	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547334303	chr8:48044791-48044792	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553219024	chr8:48044797-48044798	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs73581063	chr8:48044803-48044804	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs539460190	chr8:48044903-48044904	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs558086201	chr8:48044914-48044915	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs570075261	chr8:48044929-48044930	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs4242449	chr8:48044948-48044949	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545383121	chr8:48044986-48044987	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48040600-48061200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:48041600-48044600	Weak transcription	Gastric	stomach
3	chr8:48044400-48045000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:48044600-48044800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:48044600-48045000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:48044600-48045200	ZNF genes & repeats	Gastric	stomach
7	chr8:48044800-48045000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:48045000-48045200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:48045000-48045200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:48045200-48046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:48056600-48057000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:48064400-48064800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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