Variant report

Variant	nsv967590
Chromosome Location	chr8:54980634-54991502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:54983178-54984241	GM12878	blood:	n/a	n/a
2	ATF2	chr8:54983245-54984162	GM12878	blood:	n/a	n/a
3	BATF	chr8:54983564-54983928	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:54983595-54983899	GM12878	blood:	n/a	n/a
5	BCL3	chr8:54983448-54984130	GM12878	blood:	n/a	n/a
6	BCLAF1	chr8:54983333-54984014	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:54982726-54983084	MCF-7	breast:	n/a	n/a
8	CEBPB	chr8:54982758-54983128	HepG2	liver:	n/a	n/a
9	CEBPB	chr8:54982857-54983071	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr8:54982716-54983062	A549	lung:	n/a	n/a
11	CEBPB	chr8:54982703-54983069	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr8:54982753-54983130	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr8:54982641-54983178	A549	lung:	n/a	n/a
14	CEBPB	chr8:54982726-54983107	MCF-7	breast:	n/a	n/a
15	CEBPB	chr8:54982751-54983044	K562	blood:	n/a	n/a
16	CEBPB	chr8:54982754-54983131	IMR90	lung:	n/a	n/a
17	CEBPB	chr8:54982754-54983130	A549	lung:	n/a	n/a
18	CEBPB	chr8:54982836-54983001	K562	blood:	n/a	n/a
19	CEBPB	chr8:54982778-54983106	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr8:54982749-54983134	K562	blood:	n/a	n/a
21	CUX1	chr8:54983439-54984003	GM12878	blood:	n/a	n/a
22	E2F4	chr8:54980586-54980825	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr8:54983525-54983940	GM12878	blood:	n/a	n/a
24	EP300	chr8:54983405-54984061	GM12878	blood:	n/a	n/a
25	ESR1	chr8:54988396-54988699	T-47D	breast:	n/a	n/a
26	ETS1	chr8:54983451-54983990	GM12878	blood:	n/a	n/a
27	FOS	chr8:54986526-54986726	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:54986523-54986646	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr8:54986527-54986663	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr8:54986537-54986728	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr8:54981087-54981350	T-47D	breast:	n/a	n/a
32	FOXA1	chr8:54981095-54981296	T-47D	breast:	n/a	n/a
33	FOXM1	chr8:54983355-54983987	GM12878	blood:	n/a	n/a
34	FOXM1	chr8:54983164-54984131	GM12878	blood:	n/a	n/a
35	GATA2	chr8:54987558-54988213	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr8:54987562-54988049	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr8:54988934-54989171	T-47D	breast:	n/a	n/a
38	GATA3	chr8:54987649-54988059	MCF-7	breast:	n/a	n/a
39	JUND	chr8:54986528-54986589	HepG2	liver:	n/a	chr8:54986562-54986573
40	MAFK	chr8:54988271-54988288	HepG2	liver:	n/a	n/a
41	MEF2A	chr8:54983370-54984120	GM12878	blood:	n/a	n/a
42	MEF2A	chr8:54983237-54984147	GM12878	blood:	n/a	n/a
43	MTA3	chr8:54983256-54984264	GM12878	blood:	n/a	n/a
44	MTA3	chr8:54983494-54984076	GM12878	blood:	n/a	n/a
45	MXI1	chr8:54983506-54984214	GM12878	blood:	n/a	n/a
46	NFATC1	chr8:54983190-54984069	GM12878	blood:	n/a	n/a
47	NFATC1	chr8:54983313-54983874	GM12878	blood:	n/a	n/a
48	NFIC	chr8:54983233-54984110	GM12878	blood:	n/a	n/a
49	NFIC	chr8:54983249-54984209	GM12878	blood:	n/a	n/a
50	PAX5	chr8:54983472-54983879	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:54990352..54992315-chr8:55004670..55007174,2	K562	blood:
2	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:
3	chr8:54946751..54948524-chr8:54980424..54982070,2	K562	blood:
4	chr8:54930533..54932312-chr8:54982689..54985099,2	K562	blood:
5	chr8:54990408..54992108-chr8:55013448..55015139,2	MCF-7	breast:
6	chr8:54990580..54993539-chr8:55009667..55012320,2	K562	blood:
7	chr8:54989302..54990863-chr8:55047007..55048640,2	K562	blood:

No data

Variant related genes	Relation type
TDGF1P5	TF binding region
ENSG00000137547	chromatin interactions
ENSG00000120992	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188092230	chr8:54980658-54980659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138426086	chr8:54980688-54980689	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116636098	chr8:54980738-54980739	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs562723091	chr8:54980776-54980777	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73681305	chr8:54980786-54980787	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141829835	chr8:54980803-54980804	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74912838	chr8:54980804-54980805	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs78830049	chr8:54980805-54980806	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs192709385	chr8:54980831-54980832	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571095562	chr8:54980856-54980857	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540144816	chr8:54980866-54980867	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550081094	chr8:54980901-54980902	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs570270410	chr8:54980951-54980952	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs80138083	chr8:54980980-54980981	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554749524	chr8:54980982-54980983	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568036896	chr8:54980998-54980999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183439349	chr8:54981015-54981016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187558857	chr8:54981021-54981022	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577033459	chr8:54981089-54981090	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149841545	chr8:54981102-54981103	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs546081387	chr8:54981111-54981112	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144849964	chr8:54981142-54981143	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs568260157	chr8:54981199-54981200	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555901324	chr8:54981215-54981216	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs34232589	chr8:54981259-54981260	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534019386	chr8:54981272-54981273	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139658859	chr8:54981303-54981304	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374592901	chr8:54981311-54981312	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs118081157	chr8:54981345-54981346	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs56966479	chr8:54981373-54981374	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553808490	chr8:54981378-54981379	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576849374	chr8:54981382-54981383	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191416502	chr8:54981383-54981384	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144434546	chr8:54981451-54981452	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564528368	chr8:54981479-54981480	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117850725	chr8:54981485-54981486	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550488974	chr8:54981560-54981561	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575427921	chr8:54981564-54981565	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570258126	chr8:54981566-54981567	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146687940	chr8:54981573-54981574	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184622748	chr8:54981588-54981589	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568127516	chr8:54981615-54981616	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533908893	chr8:54981693-54981694	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553442960	chr8:54981808-54981809	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561055626	chr8:54981809-54981810	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539343580	chr8:54981832-54981833	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57835713	chr8:54981861-54981862	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79615721	chr8:54981886-54981887	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575811357	chr8:54981893-54981894	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189405258	chr8:54981944-54981945	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
3	chr8:54949800-54999400	Weak transcription	NHLF	lung
4	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
8	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
11	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
15	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
16	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
17	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
19	chr8:54966400-54991800	Weak transcription	NH-A	brain
20	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
21	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
22	chr8:54966600-54983000	Weak transcription	Brain Germinal Matrix	brain
23	chr8:54966600-54991800	Weak transcription	Osteobl	bone
24	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:54967200-54983200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:54967200-54983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:54967200-54999200	Weak transcription	Ovary	ovary
29	chr8:54967600-54981000	Weak transcription	HSMM	muscle
30	chr8:54970200-54981600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:54970400-54983400	Weak transcription	Fetal Lung	lung
32	chr8:54970400-54983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:54974400-54982200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:54974400-54985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:54974600-54982800	Weak transcription	Fetal Brain Female	brain
37	chr8:54974600-54985200	Weak transcription	Lung	lung
38	chr8:54974600-54991000	Weak transcription	K562	blood
39	chr8:54974600-54991600	Weak transcription	Thymus	Thymus
40	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
41	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
42	chr8:54974800-54982400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:54974800-54983600	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:54974800-54985600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:54974800-54987400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:54974800-54989600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:54974800-54991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:54974800-54991400	Weak transcription	Adipose Nuclei	Adipose
49	chr8:54974800-54991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:54974800-54991600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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