Variant report

Variant	nsv821123
Chromosome Location	chr4:132581408-132644295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:132643327-132643727	GM12878	blood:	n/a	n/a
2	BATF	chr4:132584050-132584633	GM12878	blood:	n/a	n/a
3	BATF	chr4:132636318-132636539	GM12878	blood:	n/a	n/a
4	BATF	chr4:132584215-132584596	GM12878	blood:	n/a	n/a
5	BATF	chr4:132629088-132629714	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:132584240-132584512	GM12878	blood:	n/a	n/a
7	BCL11A	chr4:132623030-132623230	GM12878	blood:	n/a	n/a
8	BCL11A	chr4:132584212-132584619	GM12878	blood:	n/a	n/a
9	CBX3	chr4:132604503-132604840	K562	blood:	n/a	n/a
10	CEBPB	chr4:132616734-132617234	IMR90	lung:	n/a	n/a
11	CEBPB	chr4:132609061-132609465	HepG2	liver:	n/a	chr4:132609272-132609283
12	CEBPB	chr4:132609086-132609424	A549	lung:	n/a	chr4:132609272-132609283
13	CEBPB	chr4:132609075-132609460	IMR90	lung:	n/a	chr4:132609272-132609283
14	CEBPB	chr4:132609089-132609439	K562	blood:	n/a	chr4:132609272-132609283
15	CTCF	chr4:132612800-132612950	GM12868	blood:	n/a	n/a
16	CTCF	chr4:132638500-132638650	AG09319	gingival:	n/a	n/a
17	CTCF	chr4:132583860-132584010	GM12867	blood:	n/a	n/a
18	CTCF	chr4:132626415-132626483	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr4:132610820-132610970	HMEC	breast:	n/a	n/a
20	CTCF	chr4:132603072-132603185	GM13976	blood:	n/a	n/a
21	CTCF	chr4:132590926-132590937	GM10248	blood:	n/a	n/a
22	CTCF	chr4:132616712-132616723	K562	blood:	n/a	n/a
23	E2F4	chr4:132631862-132631869	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr4:132609228-132609318	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr4:132609416-132609614	GM12878	blood:	n/a	n/a
26	EBF1	chr4:132584224-132584614	GM12878	blood:	n/a	n/a
27	EBF1	chr4:132584220-132584584	GM12878	blood:	n/a	n/a
28	EP300	chr4:132604607-132605106	GM12878	blood:	n/a	n/a
29	EP300	chr4:132641457-132641845	GM12878	blood:	n/a	n/a
30	EP300	chr4:132600752-132600800	GM12878	blood:	n/a	n/a
31	FOS	chr4:132627399-132627617	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:132609260-132609411	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:132627353-132627642	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:132627453-132627548	MCF10A-Er-Src	breast:	n/a	n/a
35	GABPA	chr4:132612664-132612791	Hela-S3	cervix:	n/a	n/a
36	IRF4	chr4:132604843-132605264	GM12878	blood:	n/a	n/a
37	IRF4	chr4:132584147-132584671	GM12878	blood:	n/a	n/a
38	IRF4	chr4:132584103-132584661	GM12878	blood:	n/a	n/a
39	IRF4	chr4:132599493-132599797	GM12878	blood:	n/a	n/a
40	JUND	chr4:132642970-132643176	HepG2	liver:	n/a	n/a
41	JUND	chr4:132623098-132623307	HepG2	liver:	n/a	n/a
42	KAP1	chr4:132604505-132604705	K562	blood:	n/a	n/a
43	KAP1	chr4:132616537-132617237	HEK293	kidney:	n/a	n/a
44	KAP1	chr4:132604476-132604703	U2OS	brain:	n/a	n/a
45	KAP1	chr4:132604341-132605007	HEK293	kidney:	n/a	n/a
46	MAFK	chr4:132606857-132607112	IMR90	lung:	n/a	chr4:132607004-132607020 chr4:132607004-132607015 chr4:132607005-132607016 chr4:132607004-132607015
47	MAFK	chr4:132606849-132607136	HepG2	liver:	n/a	chr4:132607004-132607020 chr4:132607004-132607015 chr4:132607005-132607016 chr4:132607004-132607015
48	MAFK	chr4:132606857-132607056	HepG2	liver:	n/a	chr4:132607004-132607020 chr4:132607004-132607015 chr4:132607005-132607016 chr4:132607004-132607015
49	MAFK	chr4:132617368-132617437	HepG2	liver:	n/a	n/a
50	MAFK	chr4:132584020-132584295	HepG2	liver:	n/a	chr4:132584165-132584180

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132642641-132642691	HCM	heart:	n/a
2	chr4:132643925-132643975	SK-N-SH	brain:	n/a
3	chr4:132642641-132642691	SKMC	muscle:	n/a
4	chr4:132643925-132643975	LNCaP	prostate:	n/a
5	chr4:132642641-132642691	IMR90	lung:	fetal
6	chr4:132642641-132642691	HCT-116	colon:	n/a
7	chr4:132642641-132642691	ovcar-3	ovarian:	n/a
8	chr4:132643925-132643975	HRCEpiC	kidney:	n/a
9	chr4:132643925-132643975	HIPEpiC	eye:	n/a
10	chr4:132643925-132643975	PrEC	prostate:	n/a
11	chr4:132643925-132643975	HEEpiC	esophagus:	n/a
12	chr4:132642641-132642691	MCF10A-Er-Src	breast:	n/a
13	chr4:132642641-132642691	AG09309	skin:	n/a
14	chr4:132642641-132642691	HIPEpiC	eye:	n/a
15	chr4:132643925-132643975	ECC-1	luminal epithelium:	n/a
16	chr4:132642641-132642691	Hepatocyte	liver:	n/a
17	chr4:132643925-132643975	HPAEpiC	pulmonary alveolar:	n/a
18	chr4:132643925-132643975	SK-N-MC	brain:	n/a
19	chr4:132642641-132642691	Jurkat	blood:	n/a
20	chr4:132643925-132643975	NH-A	brain:	n/a
21	chr4:132642641-132642691	GM19239	blood:	n/a
22	chr4:132643925-132643975	U87	brain:	n/a
23	chr4:132643925-132643975	HCF	heart:	n/a
24	chr4:132642641-132642691	BE2_C	brain:	n/a
25	chr4:132643925-132643975	IMR90	lung:	fetal
26	chr4:132643925-132643975	HCT-116	colon:	n/a
27	chr4:132642641-132642691	GM12878	blood:	n/a
28	chr4:132642641-132642691	H1-hESC	embryonic stem cell:	embryo
29	chr4:132642641-132642691	NHBE	bronchial:	n/a
30	chr4:132643925-132643975	Hela-S3	cervix:	n/a
31	chr4:132643925-132643975	MCF-7	breast:	n/a
32	chr4:132642641-132642691	AG09319	gingival:	n/a
33	chr4:132642641-132642691	HEEpiC	esophagus:	n/a
34	chr4:132642641-132642691	SAEC	small airway:	n/a
35	chr4:132642641-132642691	HNPCEpiC	eye:	n/a
36	chr4:132642641-132642691	HL-60	blood:	n/a
37	chr4:132643925-132643975	AG09309	skin:	n/a
38	chr4:132642641-132642691	A549	lung:	n/a
39	chr4:132642641-132642691	HUVEC	blood vessel:	n/a
40	chr4:132643925-132643975	BJ	skin:	n/a
41	chr4:132643925-132643975	H1-hESC	embryonic stem cell:	embryo
42	chr4:132643925-132643975	RPTEC	kidney:	n/a
43	chr4:132642641-132642691	HCPEpiC	choroid plexus:	n/a
44	chr4:132642641-132642691	HCF	heart:	n/a
45	chr4:132643925-132643975	MCF10A-Er-Src	breast:	n/a
46	chr4:132643925-132643975	HepG2	liver:	n/a
47	chr4:132642641-132642691	AG04449	skin:	fetal
48	chr4:132642641-132642691	HAEpiC	amniotic membrane:	n/a
49	chr4:132642641-132642691	GM12891	blood:	n/a
50	chr4:132643925-132643975	HCM	heart:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-62N21.1.1-12	chr4:132641417-132641698	NONHSAT098317

No data

Variant related genes	Relation type
RN7SL205P	TF binding region
RN7SL205P	CpG island

Extended variants
information (count: 525 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200724853	chr4:132591608-132591609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182933488	chr4:132591620-132591621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77468811	chr4:132591704-132591705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186856224	chr4:132591712-132591713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550551250	chr4:132591747-132591748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs199862922	chr4:132591796-132591797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529898356	chr4:132591808-132591809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6826057	chr4:132591816-132591817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560466811	chr4:132591864-132591865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149349075	chr4:132591881-132591882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201907230	chr4:132591899-132591900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111896120	chr4:132591956-132591957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372431914	chr4:132591958-132591959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539220211	chr4:132591975-132591976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559026785	chr4:132591979-132591980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192921267	chr4:132591980-132591981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28550781	chr4:132591989-132591990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190457984	chr4:132601601-132601602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370730740	chr4:132601665-132601666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570533540	chr4:132601690-132601691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376315412	chr4:132601691-132601692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532852110	chr4:132601693-132601694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6858369	chr4:132601698-132601699	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377515760	chr4:132601701-132601702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569490828	chr4:132601786-132601787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535393113	chr4:132601797-132601798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112377039	chr4:132601818-132601819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553138517	chr4:132601827-132601828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370991287	chr4:132601843-132601844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560470481	chr4:132601849-132601850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372087815	chr4:132601863-132601864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372151420	chr4:132601946-132601947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10001908	chr4:132601951-132601952	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375511707	chr4:132601966-132601967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368304360	chr4:132601975-132601976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112446941	chr4:132601977-132601978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535026834	chr4:132601979-132601980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557832335	chr4:132602005-132602006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573960540	chr4:132602025-132602026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200535175	chr4:132602049-132602050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542874306	chr4:132602054-132602055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202059395	chr4:132602065-132602066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578065765	chr4:132602072-132602073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543531276	chr4:132602096-132602097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369326965	chr4:132602097-132602098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9985973	chr4:132602123-132602124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574276771	chr4:132602139-132602140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144592317	chr4:132602141-132602142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374156577	chr4:132602147-132602148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543391807	chr4:132602157-132602158	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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19492091	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132591600-132592000	Enhancers	HMEC	breast
2	chr4:132601600-132602000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:132602000-132604800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:132604800-132605200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:132605000-132605200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:132622000-132622800	ZNF genes & repeats	Pancreas	Pancrea
7	chr4:132622000-132623000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr4:132628200-132629000	Enhancers	Dnd41	blood
9	chr4:132629000-132629400	Flanking Active TSS	Dnd41	blood
10	chr4:132629400-132629800	Enhancers	Dnd41	blood
11	chr4:132643200-132644000	Enhancers	GM12878-XiMat	blood
12	chr4:132643400-132643600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:132643600-132644000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:132643800-132646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:132644000-132644200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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