Variant report

Variant	nsv611304
Chromosome Location	chr8:47519781-47543932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:47529231-47529761	K562	blood:	n/a	n/a
2	ATF3	chr8:47529101-47529363	K562	blood:	n/a	n/a
3	BACH1	chr8:47536608-47536724	K562	blood:	n/a	n/a
4	BHLHE40	chr8:47528443-47529576	K562	blood:	n/a	chr8:47528874-47528890 chr8:47529336-47529352
5	CBX3	chr8:47529072-47529420	K562	blood:	n/a	n/a
6	CCNT2	chr8:47528797-47529481	K562	blood:	n/a	n/a
7	CEBPB	chr8:47534139-47534510	IMR90	lung:	n/a	n/a
8	CEBPB	chr8:47525869-47526123	K562	blood:	n/a	n/a
9	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
10	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
11	CEBPB	chr8:47534167-47534483	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:47534171-47534437	A549	lung:	n/a	n/a
13	CEBPB	chr8:47529077-47529452	K562	blood:	n/a	n/a
14	CEBPB	chr8:47540841-47541021	HepG2	liver:	n/a	chr8:47540937-47540948
15	CEBPB	chr8:47529068-47529484	K562	blood:	n/a	n/a
16	CEBPB	chr8:47534198-47534462	K562	blood:	n/a	n/a
17	CEBPB	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
18	CEBPD	chr8:47530526-47530797	K562	blood:	n/a	n/a
19	CHD2	chr8:47528496-47528521	GM12878	blood:	n/a	n/a
20	CHD2	chr8:47529015-47529214	K562	blood:	n/a	n/a
21	CHD2	chr8:47525880-47525892	HepG2	liver:	n/a	n/a
22	CTCF	chr8:47540979-47541090	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr8:47529678-47529749	ProgFib	skin:	n/a	n/a
24	CTCF	chr8:47519830-47519927	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr8:47528080-47528247	K562	blood:	n/a	n/a
26	CUX1	chr8:47528221-47528383	K562	blood:	n/a	n/a
27	CUX1	chr8:47533277-47533329	K562	blood:	n/a	n/a
28	CUX1	chr8:47527721-47527894	K562	blood:	n/a	n/a
29	E2F4	chr8:47528390-47528622	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
31	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
32	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
33	EP300	chr8:47525716-47525975	K562	blood:	n/a	n/a
34	EP300	chr8:47530193-47530822	K562	blood:	n/a	chr8:47530517-47530524
35	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
36	FOXA1	chr8:47520252-47520488	T-47D	breast:	n/a	n/a
37	GABPA	chr8:47526454-47526568	GM12878	blood:	n/a	n/a
38	GATA1	chr8:47530098-47530990	K562	blood:	n/a	chr8:47530310-47530323 chr8:47530314-47530321 chr8:47530309-47530325 chr8:47530314-47530321 chr8:47530312-47530321 chr8:47530608-47530617 chr8:47530307-47530328 chr8:47530633-47530643 chr8:47530634-47530643 chr8:47530312-47530322 chr8:47530314-47530321
39	GATA3	chr8:47533351-47533652	SH-SY5Y	brain:	n/a	n/a
40	GTF2F1	chr8:47529099-47529261	K562	blood:	n/a	n/a
41	HCFC1	chr8:47525731-47525743	K562	blood:	n/a	n/a
42	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
43	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
44	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
45	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
46	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
47	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
48	JUND	chr8:47528403-47529651	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
49	MAFK	chr8:47529135-47529246	K562	blood:	n/a	n/a
50	MAX	chr8:47528717-47529511	MCF-7	breast:	n/a	chr8:47529011-47529021

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47529280-47529330	HCM	heart:	n/a
2	chr8:47529280-47529330	HCM	heart:	n/a
3	chr8:47529280-47529330	ovcar-3	ovarian:	n/a
4	chr8:47527657-47527707	LNCaP	prostate:	n/a
5	chr8:47529545-47529595	PFSK-1	brain:	n/a
6	chr8:47529015-47529065	PANC-1	pancreas:	n/a
7	chr8:47529015-47529065	BE2_C	brain:	n/a
8	chr8:47527657-47527707	PFSK-1	brain:	n/a
9	chr8:47526309-47526359	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:47529545-47529595	NHDF-neo	bronchial:	n/a
11	chr8:47529015-47529065	HEK293	kidney:	embryo
12	chr8:47529280-47529330	HNPCEpiC	eye:	n/a
13	chr8:47529545-47529595	AoSMC	blood vessel:	n/a
14	chr8:47529545-47529595	HRE	kidney:	n/a
15	chr8:47529545-47529595	SK-N-MC	brain:	n/a
16	chr8:47526309-47526359	IMR90	lung:	fetal
17	chr8:47529545-47529595	SK-N-SH_RA	brain:	n/a
18	chr8:47526309-47526359	SK-N-SH_RA	brain:	n/a
19	chr8:47529015-47529065	ECC-1	luminal epithelium:	n/a
20	chr8:47529015-47529065	HCM	heart:	n/a
21	chr8:47526309-47526359	PFSK-1	brain:	n/a
22	chr8:47527657-47527707	NH-A	brain:	n/a
23	chr8:47529280-47529330	Caco-2	colon:	n/a
24	chr8:47529015-47529065	H1-hESC	embryonic stem cell:	embryo
25	chr8:47526309-47526359	SKMC	muscle:	n/a
26	chr8:47526309-47526359	HepG2	liver:	n/a
27	chr8:47527657-47527707	GM19239	blood:	n/a
28	chr8:47527657-47527707	T-47D	breast:	n/a
29	chr8:47529015-47529065	HRCEpiC	kidney:	n/a
30	chr8:47529545-47529595	AG10803	skin:	n/a
31	chr8:47529545-47529595	HNPCEpiC	eye:	n/a
32	chr8:47526309-47526359	SAEC	small airway:	n/a
33	chr8:47529015-47529065	AG09319	gingival:	n/a
34	chr8:47529280-47529330	GM06990	blood:	n/a
35	chr8:47526309-47526359	HL-60	blood:	n/a
36	chr8:47526309-47526359	MCF-7	breast:	n/a
37	chr8:47529545-47529595	T-47D	breast:	n/a
38	chr8:47526309-47526359	SK-N-SH	brain:	n/a
39	chr8:47529280-47529330	HL-60	blood:	n/a
40	chr8:47529280-47529330	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:47527657-47527707	HRE	kidney:	n/a
42	chr8:47529015-47529065	HCPEpiC	choroid plexus:	n/a
43	chr8:47527657-47527707	IMR90	lung:	fetal
44	chr8:47526309-47526359	GM19239	blood:	n/a
45	chr8:47526309-47526359	HCF	heart:	n/a
46	chr8:47529015-47529065	GM12891	blood:	n/a
47	chr8:47527657-47527707	HUVEC	blood vessel:	n/a
48	chr8:47529280-47529330	GM12878	blood:	n/a
49	chr8:47529545-47529595	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:47529545-47529595	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:47519082..47521588-chr8:47524616..47530066,4	K562	blood:
2	chr8:47524927..47529861-chr8:47530508..47536088,6	K562	blood:
3	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:
4	chr7:97501587..97502366-chr8:47529051..47529557,3	HCT-116	colon:
5	chr8:47515437..47518605-chr8:47528973..47530959,3	K562	blood:
6	chr8:47517410..47521817-chr8:47524226..47528650,6	K562	blood:
7	chr8:47512649..47514644-chr8:47529072..47530746,2	K562	blood:
8	chr8:47528106..47530039-chr8:47536064..47537656,2	MCF-7	breast:

Variant related genes	Relation type
ASNSP1	TF binding region
ASNSP1	CpG island
ENSG00000248498	chromatin interactions
ENSG00000070669	chromatin interactions

Extended variants
information (count: 722 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:722 , 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	rs7823791	chr8:47519781-47519782	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539385551	chr8:47519822-47519823	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7823920	chr8:47519830-47519831	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111819566	chr8:47519831-47519832	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534931015	chr8:47519842-47519843	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560020113	chr8:47519883-47519884	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370255536	chr8:47519893-47519894	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555125858	chr8:47519901-47519902	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568251744	chr8:47519917-47519918	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537141119	chr8:47519919-47519920	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556983037	chr8:47519939-47519940	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150811733	chr8:47519974-47519975	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117485993	chr8:47520001-47520002	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs118165645	chr8:47520002-47520003	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9886549	chr8:47520020-47520021	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190694897	chr8:47520059-47520060	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1917559	chr8:47520073-47520074	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182612992	chr8:47520074-47520075	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9886550	chr8:47520076-47520077	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs564045523	chr8:47520097-47520098	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143872445	chr8:47520105-47520106	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386725018	chr8:47520123-47520124	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4612358	chr8:47520125-47520126	Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147268267	chr8:47520166-47520167	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369038027	chr8:47520177-47520178	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549559723	chr8:47520188-47520189	Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74908781	chr8:47520200-47520201	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566275641	chr8:47520213-47520214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372727897	chr8:47520254-47520255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528768806	chr8:47520348-47520349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376023480	chr8:47520363-47520364	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4461911	chr8:47520374-47520375	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117260361	chr8:47520404-47520405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537202607	chr8:47520410-47520411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557045942	chr8:47520438-47520439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570578413	chr8:47520455-47520456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539470468	chr8:47520491-47520492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553310546	chr8:47520508-47520509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553812949	chr8:47520517-47520518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542096887	chr8:47520518-47520519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373174868	chr8:47520545-47520546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370937095	chr8:47520550-47520551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs56091898	chr8:47520568-47520569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549578599	chr8:47520571-47520572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575511935	chr8:47520572-47520573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544379354	chr8:47520604-47520605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564183464	chr8:47520683-47520684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140845261	chr8:47520687-47520688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539885569	chr8:47520703-47520704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560085759	chr8:47520711-47520712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Oral cancer	21386901	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
Acute myeloid leukemia	21251322	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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47518600-47520200	Strong transcription	K562	blood
2	chr8:47520200-47525800	Weak transcription	K562	blood
3	chr8:47525800-47526000	Genic enhancers	K562	blood
4	chr8:47526000-47526200	Enhancers	K562	blood
5	chr8:47526200-47527000	Weak transcription	K562	blood
6	chr8:47527000-47529400	Active TSS	K562	blood
7	chr8:47528200-47529200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:47528200-47529200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:47528600-47528800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:47528600-47529400	Active TSS	Pancreas	Pancrea
11	chr8:47528800-47529200	ZNF genes & repeats	Placenta	Placenta
12	chr8:47529000-47529200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:47529200-47529600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:47529400-47529800	Flanking Active TSS	K562	blood
15	chr8:47529400-47531400	Weak transcription	Pancreas	Pancrea
16	chr8:47529800-47531000	Enhancers	K562	blood
17	chr8:47531600-47535200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:47531800-47532200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr8:47534800-47535200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:47539400-47539800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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