Variant report

Variant	nsv611305
Chromosome Location	chr8:47528414-47543932
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	chr8:47529073-47529534	MCF-7	breast:	n/a	n/a
8	CEBPB	chr8:47530129-47530132	K562	blood:	n/a	n/a
9	CEBPB	chr8:47529068-47529484	K562	blood:	n/a	n/a
10	CEBPB	chr8:47534198-47534462	K562	blood:	n/a	n/a
11	CEBPB	chr8:47529077-47529452	K562	blood:	n/a	n/a
12	CEBPB	chr8:47534167-47534483	HepG2	liver:	n/a	n/a
13	CEBPB	chr8:47534171-47534437	A549	lung:	n/a	n/a
14	CEBPB	chr8:47534139-47534510	IMR90	lung:	n/a	n/a
15	CEBPB	chr8:47540841-47541021	HepG2	liver:	n/a	chr8:47540937-47540948
16	CEBPB	chr8:47529169-47529350	K562	blood:	n/a	n/a
17	CEBPD	chr8:47530526-47530797	K562	blood:	n/a	n/a
18	CHD2	chr8:47529015-47529214	K562	blood:	n/a	n/a
19	CHD2	chr8:47528496-47528521	GM12878	blood:	n/a	n/a
20	CTCF	chr8:47529678-47529749	ProgFib	skin:	n/a	n/a
21	CTCF	chr8:47540979-47541090	Kidney_OC	kidney:	n/a	n/a
22	CUX1	chr8:47533277-47533329	K562	blood:	n/a	n/a
23	E2F4	chr8:47528390-47528622	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F6	chr8:47528996-47529421	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
25	E2F6	chr8:47528562-47529568	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
26	E2F6	chr8:47528632-47529472	K562	blood:	n/a	chr8:47529229-47529239 chr8:47529231-47529240 chr8:47529337-47529347
27	EP300	chr8:47530193-47530822	K562	blood:	n/a	chr8:47530517-47530524
28	EP300	chr8:47528058-47529554	K562	blood:	n/a	chr8:47529340-47529356 chr8:47529228-47529237
29	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
30	GATA3	chr8:47533351-47533652	SH-SY5Y	brain:	n/a	n/a
31	GTF2F1	chr8:47529099-47529261	K562	blood:	n/a	n/a
32	HCFC1	chr8:47528853-47529515	K562	blood:	n/a	n/a
33	HEY1	chr8:47528573-47529560	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
34	HEY1	chr8:47529042-47529416	K562	blood:	n/a	chr8:47529229-47529244 chr8:47529340-47529355 chr8:47529337-47529352
35	HMGN3	chr8:47528620-47529498	K562	blood:	n/a	n/a
36	IRF1	chr8:47528936-47529432	K562	blood:	n/a	chr8:47529349-47529363 chr8:47529344-47529358 chr8:47529321-47529335 chr8:47529008-47529022 chr8:47529284-47529291
37	JUN	chr8:47528562-47529766	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
38	JUND	chr8:47528403-47529651	K562	blood:	n/a	chr8:47529349-47529358 chr8:47529335-47529344 chr8:47529029-47529040
39	MAFK	chr8:47529135-47529246	K562	blood:	n/a	n/a
40	MAX	chr8:47530545-47530803	K562	blood:	n/a	n/a
41	MAX	chr8:47528717-47529511	MCF-7	breast:	n/a	chr8:47529011-47529021
42	MAX	chr8:47528509-47529586	K562	blood:	n/a	chr8:47529011-47529021
43	MAX	chr8:47529013-47529420	K562	blood:	n/a	n/a
44	MAX	chr8:47528981-47529410	MCF-7	breast:	n/a	chr8:47529011-47529021
45	MAX	chr8:47528578-47529775	K562	blood:	n/a	chr8:47529011-47529021
46	MAX	chr8:47528706-47528848	K562	blood:	n/a	n/a
47	MAZ	chr8:47528573-47529583	K562	blood:	n/a	chr8:47529011-47529021
48	MXI1	chr8:47529109-47529274	K562	blood:	n/a	n/a
49	MYC	chr8:47528536-47529525	K562	blood:	n/a	chr8:47529011-47529021
50	MYC	chr8:47528094-47529947	K562	blood:	n/a	chr8:47528368-47528377 chr8:47529011-47529021

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47529280-47529330	HCT-116	colon:	n/a
2	chr8:47529545-47529595	HEEpiC	esophagus:	n/a
3	chr8:47529545-47529595	HNPCEpiC	eye:	n/a
4	chr8:47529280-47529330	T-47D	breast:	n/a
5	chr8:47529015-47529065	HRPEpiC	eye:	n/a
6	chr8:47529280-47529330	NB4	blood:	n/a
7	chr8:47529280-47529330	K562	blood:	n/a
8	chr8:47529015-47529065	HIPEpiC	eye:	n/a
9	chr8:47529545-47529595	SK-N-SH	brain:	n/a
10	chr8:47529015-47529065	RPTEC	kidney:	n/a
11	chr8:47529545-47529595	BJ	skin:	n/a
12	chr8:47529280-47529330	Caco-2	colon:	n/a
13	chr8:47529545-47529595	GM19239	blood:	n/a
14	chr8:47529545-47529595	PrEC	prostate:	n/a
15	chr8:47529015-47529065	SKMC	muscle:	n/a
16	chr8:47529545-47529595	HUVEC	blood vessel:	n/a
17	chr8:47529015-47529065	HMEC	breast:	n/a
18	chr8:47529545-47529595	AG09319	gingival:	n/a
19	chr8:47529280-47529330	HEK293	kidney:	embryo
20	chr8:47529545-47529595	ECC-1	luminal epithelium:	n/a
21	chr8:47529545-47529595	NHDF-neo	bronchial:	n/a
22	chr8:47529280-47529330	BE2_C	brain:	n/a
23	chr8:47529280-47529330	HCF	heart:	n/a
24	chr8:47529280-47529330	Hela-S3	cervix:	n/a
25	chr8:47529545-47529595	ProgFib	skin:	n/a
26	chr8:47529015-47529065	HCF	heart:	n/a
27	chr8:47529280-47529330	NHDF-neo	bronchial:	n/a
28	chr8:47529545-47529595	GM12878	blood:	n/a
29	chr8:47529015-47529065	AG04449	skin:	fetal
30	chr8:47529015-47529065	IMR90	lung:	fetal
31	chr8:47529545-47529595	SK-N-SH_RA	brain:	n/a
32	chr8:47529015-47529065	HepG2	liver:	n/a
33	chr8:47529015-47529065	PrEC	prostate:	n/a
34	chr8:47529280-47529330	NHBE	bronchial:	n/a
35	chr8:47529545-47529595	SKMC	muscle:	n/a
36	chr8:47529545-47529595	HAEpiC	amniotic membrane:	n/a
37	chr8:47529280-47529330	GM06990	blood:	n/a
38	chr8:47529015-47529065	ProgFib	skin:	n/a
39	chr8:47529015-47529065	HCM	heart:	n/a
40	chr8:47529015-47529065	AG10803	skin:	n/a
41	chr8:47529280-47529330	GM12892	blood:	n/a
42	chr8:47529015-47529065	ECC-1	luminal epithelium:	n/a
43	chr8:47529015-47529065	HCT-116	colon:	n/a
44	chr8:47529545-47529595	GM06990	blood:	n/a
45	chr8:47529015-47529065	SK-N-SH_RA	brain:	n/a
46	chr8:47529015-47529065	K562	blood:	n/a
47	chr8:47529545-47529595	CMK	blood:	n/a
48	chr8:47529545-47529595	SAEC	small airway:	n/a
49	chr8:47529280-47529330	PrEC	prostate:	n/a
50	chr8:47529280-47529330	HUVEC	blood vessel:	n/a

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

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

Extended variants
information (count: 321 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7837955	chr8:47528414-47528415	Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34806500	chr8:47528429-47528430	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531497394	chr8:47528474-47528475	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542763788	chr8:47528489-47528490	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs551602407	chr8:47528531-47528532	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571360096	chr8:47528533-47528534	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533701458	chr8:47528584-47528585	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547108093	chr8:47528632-47528633	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544993459	chr8:47528718-47528719	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566992467	chr8:47528723-47528724	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs565150212	chr8:47528778-47528779	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs367755828	chr8:47528800-47528801	Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530625356	chr8:47528802-47528803	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372605522	chr8:47528804-47528805	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560818863	chr8:47528819-47528820	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs576115518	chr8:47528843-47528844	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376117734	chr8:47528859-47528860	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555721763	chr8:47528913-47528914	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113229396	chr8:47528918-47528919	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544880535	chr8:47528943-47528944	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs140162191	chr8:47528952-47528953	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs558382913	chr8:47529071-47529072	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs578116047	chr8:47529073-47529074	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs28416369	chr8:47529082-47529083	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560598495	chr8:47529099-47529100	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574166894	chr8:47529135-47529136	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543084845	chr8:47529137-47529138	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562736358	chr8:47529149-47529150	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567461342	chr8:47529196-47529197	Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10090476	chr8:47529212-47529213	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376793191	chr8:47529248-47529249	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551398648	chr8:47529276-47529277	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547097302	chr8:47529277-47529278	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565154380	chr8:47529301-47529302	Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527506840	chr8:47529358-47529359	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6558274	chr8:47529371-47529372	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567055454	chr8:47529433-47529434	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190187541	chr8:47529436-47529437	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113326787	chr8:47529487-47529488	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549791688	chr8:47529495-47529496	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569554178	chr8:47529498-47529499	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538588175	chr8:47529522-47529523	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs563084689	chr8:47529528-47529529	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs146406854	chr8:47529596-47529597	Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs566777546	chr8:47529643-47529644	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372177153	chr8:47529742-47529743	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538989520	chr8:47529791-47529792	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs139456856	chr8:47529875-47529876	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs552605165	chr8:47529877-47529878	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374818004	chr8:47529923-47529924	Weak transcription Enhancers	TF binding 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:15 , 50 per page) page: 1

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

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