Variant report

Variant	nsv1005257
Chromosome Location	chr4:86899596-86925469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
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	BATF	chr4:86900366-86900640	GM12878	blood:	n/a	n/a
2	BATF	chr4:86900349-86900625	GM12878	blood:	n/a	n/a
3	CCNT2	chr4:86920012-86920156	K562	blood:	n/a	n/a
4	CEBPB	chr4:86905831-86906042	HepG2	liver:	n/a	chr4:86905916-86905927
5	CEBPB	chr4:86909606-86909689	HepG2	liver:	n/a	chr4:86909622-86909633
6	CEBPB	chr4:86918827-86919008	IMR90	lung:	n/a	chr4:86918864-86918875
7	CEBPB	chr4:86918804-86918984	HepG2	liver:	n/a	chr4:86918864-86918875
8	CEBPB	chr4:86918822-86918960	H1-hESC	embryonic stem cell:	n/a	chr4:86918864-86918875
9	CEBPB	chr4:86907477-86907775	IMR90	lung:	n/a	n/a
10	CEBPB	chr4:86905811-86906054	IMR90	lung:	n/a	chr4:86905916-86905927
11	CEBPB	chr4:86909520-86909536	A549	lung:	n/a	n/a
12	CTCF	chr4:86899720-86899870	GM12872	blood:	n/a	n/a
13	CTCF	chr4:86918465-86918491	GM10248	blood:	n/a	n/a
14	CTCF	chr4:86899780-86899930	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr4:86916674-86916720	ProgFib	skin:	n/a	n/a
16	CTCF	chr4:86899680-86899830	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr4:86918918-86918933	GM13977	blood:	n/a	n/a
18	CTCF	chr4:86902880-86903030	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr4:86899720-86899870	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr4:86915858-86915909	HUVEC	blood vessel:	n/a	n/a
21	CUX1	chr4:86912372-86912410	GM12878	blood:	n/a	n/a
22	CUX1	chr4:86905054-86905066	GM12878	blood:	n/a	n/a
23	E2F4	chr4:86907303-86907503	MCF10A-Er-Src	breast:	n/a	chr4:86907344-86907353
24	EBF1	chr4:86900542-86900694	GM12878	blood:	n/a	n/a
25	EP300	chr4:86921213-86921456	SK-N-SH_RA	brain:	n/a	chr4:86921235-86921249 chr4:86921234-86921248
26	EP300	chr4:86900407-86900576	GM12878	blood:	n/a	n/a
27	FOS	chr4:86907450-86907755	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:86907472-86907730	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:86907466-86907768	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr4:86907465-86907755	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr4:86915773-86916129	HUVEC	blood vessel:	n/a	chr4:86915941-86915952
32	GATA2	chr4:86924826-86925616	SH-SY5Y	brain:	n/a	n/a
33	GATA3	chr4:86915100-86915274	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr4:86925165-86925593	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr4:86914168-86914349	SH-SY5Y	brain:	n/a	chr4:86914259-86914270
36	GATA3	chr4:86913698-86913859	SH-SY5Y	brain:	n/a	n/a
37	IKZF1	chr4:86900542-86900663	GM12878	blood:	n/a	n/a
38	MAFK	chr4:86921598-86921910	IMR90	lung:	n/a	n/a
39	MAFK	chr4:86921639-86921824	HepG2	liver:	n/a	n/a
40	MAFK	chr4:86900381-86900488	HepG2	liver:	n/a	chr4:86900426-86900441
41	MAX	chr4:86903688-86903720	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:86918682-86918780	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:86924886-86924950	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:86922545-86923053	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr4:86921074-86921177	K562	blood:	n/a	n/a
46	POLR2A	chr4:86903683-86903752	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:86925192-86925616	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr4:86917604-86917677	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr4:86917889-86917910	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr4:86917917-86917971	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:86923558-86923608	HRCEpiC	kidney:	n/a
2	chr4:86923558-86923608	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:86923558-86923608	NB4	blood:	n/a
4	chr4:86923558-86923608	HepG2	liver:	n/a
5	chr4:86923558-86923608	AG09309	skin:	n/a
6	chr4:86923558-86923608	BE2_C	brain:	n/a
7	chr4:86923558-86923608	GM12891	blood:	n/a
8	chr4:86923558-86923608	H1-hESC	embryonic stem cell:	embryo
9	chr4:86923558-86923608	HCPEpiC	choroid plexus:	n/a
10	chr4:86923558-86923608	HUVEC	blood vessel:	n/a
11	chr4:86923558-86923608	NHDF-neo	bronchial:	n/a
12	chr4:86923558-86923608	AG04450	lung:	fetal
13	chr4:86923558-86923608	CMK	blood:	n/a
14	chr4:86923558-86923608	ovcar-3	ovarian:	n/a
15	chr4:86923558-86923608	HCM	heart:	n/a
16	chr4:86923558-86923608	ECC-1	luminal epithelium:	n/a
17	chr4:86923558-86923608	T-47D	breast:	n/a
18	chr4:86923558-86923608	GM06990	blood:	n/a
19	chr4:86923558-86923608	RPTEC	kidney:	n/a
20	chr4:86923558-86923608	MCF-7	breast:	n/a
21	chr4:86923558-86923608	K562	blood:	n/a
22	chr4:86923558-86923608	SKMC	muscle:	n/a
23	chr4:86923558-86923608	IMR90	lung:	fetal
24	chr4:86923558-86923608	GM12892	blood:	n/a
25	chr4:86923558-86923608	HNPCEpiC	eye:	n/a
26	chr4:86923558-86923608	MCF10A-Er-Src	breast:	n/a
27	chr4:86923558-86923608	HCF	heart:	n/a
28	chr4:86923558-86923608	HMEC	breast:	n/a
29	chr4:86923558-86923608	HL-60	blood:	n/a
30	chr4:86923558-86923608	U87	brain:	n/a
31	chr4:86923558-86923608	HEEpiC	esophagus:	n/a
32	chr4:86923558-86923608	AG09319	gingival:	n/a
33	chr4:86923558-86923608	Jurkat	blood:	n/a
34	chr4:86923558-86923608	Hela-S3	cervix:	n/a
35	chr4:86923558-86923608	GM19239	blood:	n/a
36	chr4:86923558-86923608	ProgFib	skin:	n/a
37	chr4:86923558-86923608	AG04449	skin:	fetal
38	chr4:86923558-86923608	SK-N-SH	brain:	n/a
39	chr4:86923558-86923608	PANC-1	pancreas:	n/a
40	chr4:86923558-86923608	AG10803	skin:	n/a
41	chr4:86923558-86923608	Hepatocyte	liver:	n/a
42	chr4:86923558-86923608	Caco-2	colon:	n/a
43	chr4:86923558-86923608	AoSMC	blood vessel:	n/a
44	chr4:86923558-86923608	LNCaP	prostate:	n/a
45	chr4:86923558-86923608	SK-N-SH_RA	brain:	n/a
46	chr4:86923558-86923608	HIPEpiC	eye:	n/a
47	chr4:86923558-86923608	NT2-D1	testis:	n/a
48	chr4:86923558-86923608	HRE	kidney:	n/a
49	chr4:86923558-86923608	NH-A	brain:	n/a
50	chr4:86923558-86923608	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000273389	TF binding region
ENSG00000273389	CpG island

Extended variants
information (count: 967 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6838333	chr4:86899596-86899597	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150329963	chr4:86899659-86899660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545761050	chr4:86899683-86899684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34277366	chr4:86899721-86899722	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563968566	chr4:86899727-86899728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79524697	chr4:86899814-86899815	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539415688	chr4:86899873-86899874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532921795	chr4:86899924-86899925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549401816	chr4:86899957-86899958	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs346475	chr4:86900011-86900012	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs13102197	chr4:86900041-86900042	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs548331693	chr4:86900187-86900188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550784091	chr4:86900209-86900210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185719999	chr4:86900311-86900312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188619869	chr4:86900340-86900341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112704894	chr4:86900417-86900418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111726731	chr4:86900452-86900453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141011107	chr4:86900464-86900465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144771439	chr4:86900473-86900474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181033850	chr4:86900498-86900499	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138779284	chr4:86900526-86900527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556902692	chr4:86900560-86900561	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141833451	chr4:86900572-86900573	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573757940	chr4:86900630-86900631	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545628845	chr4:86900636-86900637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534007633	chr4:86900647-86900648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148304289	chr4:86900654-86900655	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572468464	chr4:86900677-86900678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539860345	chr4:86900718-86900719	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186255249	chr4:86900761-86900762	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529571383	chr4:86900763-86900764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371466220	chr4:86900771-86900772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190776487	chr4:86900779-86900780	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551140327	chr4:86900822-86900823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141395869	chr4:86900863-86900864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376270365	chr4:86900890-86900891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7688039	chr4:86900917-86900918	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112372421	chr4:86900931-86900932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566965158	chr4:86900977-86900978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527651944	chr4:86900984-86900985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570890556	chr4:86900990-86900991	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568337832	chr4:86901101-86901102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535781710	chr4:86901109-86901110	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111416187	chr4:86901196-86901197	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568914684	chr4:86901205-86901206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539632606	chr4:86901244-86901245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557537561	chr4:86901245-86901246	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184172349	chr4:86901320-86901321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139282004	chr4:86901359-86901360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564777130	chr4:86901391-86901392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86854200-86915800	Weak transcription	Left Ventricle	heart
2	chr4:86863600-86902000	Weak transcription	Pancreas	Pancrea
3	chr4:86875200-86915800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:86880600-86915800	Weak transcription	Gastric	stomach
5	chr4:86885000-86915600	Weak transcription	Fetal Lung	lung
6	chr4:86887600-86915600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:86888800-86919200	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:86889400-86915800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:86889400-86935000	Weak transcription	Psoas Muscle	Psoas
10	chr4:86889600-86904000	Weak transcription	Aorta	Aorta
11	chr4:86890400-86901800	Weak transcription	Liver	Liver
12	chr4:86890400-86916000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:86891400-86915800	Weak transcription	HSMMtube	muscle
14	chr4:86891800-86905400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:86892000-86901400	Weak transcription	Fetal Kidney	kidney
16	chr4:86892000-86904000	Weak transcription	Adipose Nuclei	Adipose
17	chr4:86892000-86915600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:86892000-86915600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:86892000-86915800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:86892000-86916000	Weak transcription	Spleen	Spleen
21	chr4:86893000-86906600	Strong transcription	HUVEC	blood vessel
22	chr4:86893200-86906600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:86893200-86908600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr4:86894000-86907400	Weak transcription	Osteobl	bone
25	chr4:86894400-86900400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:86894400-86901800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:86894400-86901800	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:86894400-86915800	Weak transcription	Ovary	ovary
29	chr4:86895000-86910400	Strong transcription	Primary B cells from cord blood	blood
30	chr4:86895400-86900000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:86895400-86903800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:86896400-86900400	Strong transcription	NHDF-Ad	bronchial
33	chr4:86896600-86902600	Weak transcription	Fetal Stomach	stomach
34	chr4:86897000-86906800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:86897600-86915600	Weak transcription	Placenta	Placenta
36	chr4:86897600-86916000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:86897600-86916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:86897800-86906800	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:86898200-86899800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr4:86898200-86900200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:86898600-86901600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:86898800-86900000	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr4:86899200-86899800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:86899200-86902400	Weak transcription	HSMM	muscle
45	chr4:86899200-86927000	Weak transcription	Lung	lung
46	chr4:86899800-86915800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:86899800-86915800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:86899800-86917800	Weak transcription	Small Intestine	intestine
49	chr4:86900000-86915600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:86900000-86915800	Weak transcription	Muscle Satellite Cultured Cells	--

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