Variant report

Variant	nsv971305
Chromosome Location	chr8:48028714-48043860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:48032412-48032646	HepG2	liver:	n/a	chr8:48032579-48032590
2	CEBPB	chr8:48032398-48032699	A549	lung:	n/a	chr8:48032579-48032590
3	CEBPB	chr8:48032416-48032679	IMR90	lung:	n/a	chr8:48032579-48032590
4	CEBPB	chr8:48032411-48032645	Hela-S3	cervix:	n/a	chr8:48032579-48032590
5	CTCF	chr8:48029287-48029320	GM20000	blood:	n/a	n/a
6	E2F4	chr8:48038226-48038243	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr8:48031271-48031320	K562	blood:	n/a	n/a
8	FOS	chr8:48032365-48032697	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr8:48032386-48032644	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr8:48032365-48032640	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:48038248-48038448	MCF10A-Er-Src	breast:	n/a	chr8:48038280-48038289
12	FOS	chr8:48043475-48043521	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:48032391-48032644	MCF10A-Er-Src	breast:	n/a	n/a
14	JUN	chr8:48037612-48037812	K562	blood:	n/a	n/a
15	JUN	chr8:48035724-48035990	K562	blood:	n/a	n/a
16	JUND	chr8:48043408-48043608	HepG2	liver:	n/a	chr8:48043537-48043548 chr8:48043538-48043547
17	KAP1	chr8:48031475-48031660	K562	blood:	n/a	n/a
18	MAFF	chr8:48030992-48031184	HepG2	liver:	n/a	chr8:48031112-48031130
19	MAFF	chr8:48043282-48043467	K562	blood:	n/a	n/a
20	MAFK	chr8:48031037-48031271	HepG2	liver:	n/a	chr8:48031114-48031129
21	MAFK	chr8:48031920-48031965	HepG2	liver:	n/a	n/a
22	MAFK	chr8:48038433-48038532	HepG2	liver:	n/a	chr8:48038497-48038508 chr8:48038496-48038507 chr8:48038495-48038509 chr8:48038496-48038507 chr8:48038496-48038511
23	MAFK	chr8:48030980-48031287	HepG2	liver:	n/a	chr8:48031114-48031129
24	MYC	chr8:48032370-48032567	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr8:48041476-48041501	K562	blood:	n/a	n/a
26	MYC	chr8:48041375-48041502	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr8:48042588-48042746	MCF-7	breast:	n/a	n/a
28	RCOR1	chr8:48041402-48041601	K562	blood:	n/a	n/a
29	STAT3	chr8:48037654-48037766	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr8:48032480-48032523	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr8:48032427-48032617	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48038289-48038339	U87	brain:	n/a
2	chr8:48038289-48038339	LNCaP	prostate:	n/a
3	chr8:48038289-48038339	HUVEC	blood vessel:	n/a
4	chr8:48038289-48038339	AG10803	skin:	n/a
5	chr8:48038289-48038339	GM12878	blood:	n/a
6	chr8:48038289-48038339	HL-60	blood:	n/a
7	chr8:48038289-48038339	RPTEC	kidney:	n/a
8	chr8:48038289-48038339	HEK293	kidney:	embryo
9	chr8:48038289-48038339	HCT-116	colon:	n/a
10	chr8:48038289-48038339	BJ	skin:	n/a
11	chr8:48038289-48038339	ovcar-3	ovarian:	n/a
12	chr8:48038289-48038339	GM12891	blood:	n/a
13	chr8:48038289-48038339	H1-hESC	embryonic stem cell:	embryo
14	chr8:48038289-48038339	ECC-1	luminal epithelium:	n/a
15	chr8:48038289-48038339	HEEpiC	esophagus:	n/a
16	chr8:48038289-48038339	MCF-7	breast:	n/a
17	chr8:48038289-48038339	IMR90	lung:	fetal
18	chr8:48038289-48038339	ProgFib	skin:	n/a
19	chr8:48038289-48038339	HCPEpiC	choroid plexus:	n/a
20	chr8:48038289-48038339	Caco-2	colon:	n/a
21	chr8:48038289-48038339	A549	lung:	n/a
22	chr8:48038289-48038339	NHDF-neo	bronchial:	n/a
23	chr8:48038289-48038339	PrEC	prostate:	n/a
24	chr8:48038289-48038339	GM19239	blood:	n/a
25	chr8:48038289-48038339	GM06990	blood:	n/a
26	chr8:48038289-48038339	BE2_C	brain:	n/a
27	chr8:48038289-48038339	AoSMC	blood vessel:	n/a
28	chr8:48038289-48038339	NB4	blood:	n/a
29	chr8:48038289-48038339	AG09319	gingival:	n/a
30	chr8:48038289-48038339	SAEC	small airway:	n/a
31	chr8:48038289-48038339	SKMC	muscle:	n/a
32	chr8:48038289-48038339	Hepatocyte	liver:	n/a
33	chr8:48038289-48038339	HRCEpiC	kidney:	n/a
34	chr8:48038289-48038339	SK-N-SH	brain:	n/a
35	chr8:48038289-48038339	T-47D	breast:	n/a
36	chr8:48038289-48038339	HRPEpiC	eye:	n/a
37	chr8:48038289-48038339	HCM	heart:	n/a
38	chr8:48038289-48038339	NHBE	bronchial:	n/a
39	chr8:48038289-48038339	PFSK-1	brain:	n/a
40	chr8:48038289-48038339	K562	blood:	n/a
41	chr8:48038289-48038339	HRE	kidney:	n/a
42	chr8:48038289-48038339	HepG2	liver:	n/a
43	chr8:48038289-48038339	NH-A	brain:	n/a
44	chr8:48038289-48038339	NT2-D1	testis:	n/a
45	chr8:48038289-48038339	MCF10A-Er-Src	breast:	n/a
46	chr8:48038289-48038339	AG04450	lung:	fetal
47	chr8:48038289-48038339	HNPCEpiC	eye:	n/a
48	chr8:48038289-48038339	HIPEpiC	eye:	n/a
49	chr8:48038289-48038339	HAEpiC	amniotic membrane:	n/a
50	chr8:48038289-48038339	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:151936576..151938783-chr8:48037858..48040574,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-819P	TF binding region
RNU6-819P	CpG island
ENSG00000207422	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs183274078	chr8:48037877-48037878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559661364	chr8:48037891-48037892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549961133	chr8:48037919-48037920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140268041	chr8:48037922-48037923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144038730	chr8:48037948-48037949	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553696144	chr8:48037996-48037997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542602009	chr8:48038029-48038030	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571998505	chr8:48038137-48038138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs115883161	chr8:48038289-48038290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146470967	chr8:48038290-48038291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576503563	chr8:48038350-48038351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543517173	chr8:48038420-48038421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528481635	chr8:48038424-48038425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551827702	chr8:48038428-48038429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562198788	chr8:48038440-48038441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574315172	chr8:48038441-48038442	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541642574	chr8:48038490-48038491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560097126	chr8:48038515-48038516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533618178	chr8:48038526-48038527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35876975	chr8:48038528-48038529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117255163	chr8:48038534-48038535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563889402	chr8:48038553-48038554	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372864419	chr8:48038558-48038559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375212963	chr8:48038634-48038635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188377759	chr8:48038635-48038636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559686686	chr8:48038639-48038640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568143106	chr8:48038643-48038644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs33997343	chr8:48038668-48038669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs193197951	chr8:48038779-48038780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571668357	chr8:48038803-48038804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547151012	chr8:48038813-48038814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs565641315	chr8:48038820-48038821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183429731	chr8:48038823-48038824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1833511	chr8:48038831-48038832	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1833510	chr8:48038833-48038834	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537434831	chr8:48038890-48038891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188384610	chr8:48038893-48038894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574174210	chr8:48038956-48038957	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541644844	chr8:48039007-48039008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191624309	chr8:48039063-48039064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565121842	chr8:48039083-48039084	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183674851	chr8:48039104-48039105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545410008	chr8:48039146-48039147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563985589	chr8:48039188-48039189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs140819179	chr8:48039212-48039213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551099895	chr8:48039246-48039247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561216604	chr8:48039270-48039271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150143971	chr8:48039289-48039290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186563523	chr8:48039294-48039295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs6558201	chr8:48039296-48039297	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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

Chromatin state (count:3 , 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	chr8:48041400-48041600	Enhancers	Gastric	stomach
3	chr8:48041600-48044600	Weak transcription	Gastric	stomach

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