Variant report

Variant	nsv1025659
Chromosome Location	chr4:132279583-132371796
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	ATF2	chr4:132347383-132348003	GM12878	blood:	n/a	n/a
2	ATF2	chr4:132347459-132347932	GM12878	blood:	n/a	n/a
3	BATF	chr4:132347469-132347900	GM12878	blood:	n/a	n/a
4	BATF	chr4:132347572-132347877	GM12878	blood:	n/a	n/a
5	BCL11A	chr4:132347576-132347893	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:132347442-132347953	GM12878	blood:	n/a	n/a
7	BCL3	chr4:132347488-132347811	GM12878	blood:	n/a	n/a
8	BCLAF1	chr4:132347460-132347821	GM12878	blood:	n/a	n/a
9	BCLAF1	chr4:132347567-132347910	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:132347604-132347811	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:132369178-132369366	GM12878	blood:	n/a	n/a
12	CCNT2	chr4:132300478-132300751	K562	blood:	n/a	n/a
13	CEBPB	chr4:132334422-132334633	K562	blood:	n/a	chr4:132334512-132334525 chr4:132334513-132334524 chr4:132334514-132334523 chr4:132334512-132334525 chr4:132334512-132334523
14	CEBPB	chr4:132316111-132316328	HepG2	liver:	n/a	chr4:132316170-132316181 chr4:132316241-132316252 chr4:132316170-132316183 chr4:132316241-132316254 chr4:132316241-132316254
15	CEBPB	chr4:132334395-132334652	IMR90	lung:	n/a	chr4:132334512-132334525 chr4:132334513-132334524 chr4:132334514-132334523 chr4:132334512-132334525 chr4:132334512-132334523
16	CEBPB	chr4:132299279-132299529	K562	blood:	n/a	n/a
17	CEBPB	chr4:132300197-132300397	HepG2	liver:	n/a	chr4:132300269-132300282 chr4:132300270-132300281 chr4:132300256-132300267
18	CEBPB	chr4:132334417-132334650	HepG2	liver:	n/a	chr4:132334512-132334525 chr4:132334513-132334524 chr4:132334514-132334523 chr4:132334512-132334525 chr4:132334512-132334523
19	CHD2	chr4:132347690-132347789	GM12878	blood:	n/a	n/a
20	CREB1	chr4:132347545-132347919	GM12878	blood:	n/a	n/a
21	CTCF	chr4:132324785-132324802	GM20000	blood:	n/a	n/a
22	CTCF	chr4:132351588-132351686	MCF-7	breast:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
23	CTCF	chr4:132351600-132351750	GM12865	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
24	CTCF	chr4:132297223-132297230	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr4:132351580-132351682	GM12891	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
26	CTCF	chr4:132351540-132351690	Hela-S3	cervix:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
27	CTCF	chr4:132300624-132300790	LNCaP	prostate:	n/a	n/a
28	CTCF	chr4:132351615-132351696	LNCaP	prostate:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
29	CTCF	chr4:132314586-132314638	GM10248	blood:	n/a	n/a
30	CTCF	chr4:132351560-132351710	HMEC	breast:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
31	CTCF	chr4:132351520-132351670	RPTEC	kidney:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
32	CTCF	chr4:132351540-132351690	HRPEpiC	eye:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
33	CTCF	chr4:132351540-132351690	GM12869	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
34	CTCF	chr4:132351616-132351706	LNCaP	prostate:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
35	CTCF	chr4:132351441-132351834	GM12878	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
36	CTCF	chr4:132300627-132300750	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr4:132351538-132351775	GM12878	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
38	CTCF	chr4:132351580-132351730	HEEpiC	esophagus:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
39	CTCF	chr4:132351578-132351719	HepG2	liver:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
40	CTCF	chr4:132351600-132351750	GM12869	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
41	CTCF	chr4:132351662-132351691	K562	blood:	n/a	n/a
42	CTCF	chr4:132351560-132351710	HAc	cerebellar:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
43	CTCF	chr4:132351520-132351670	Caco-2	colon:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
44	CTCF	chr4:132300602-132300797	K562	blood:	n/a	n/a
45	CTCF	chr4:132351540-132351690	WERI-Rb-1	eye:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
46	CTCF	chr4:132351622-132351710	Kidney_OC	kidney:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
47	CTCF	chr4:132361440-132361590	GM12868	blood:	n/a	n/a
48	CTCF	chr4:132351580-132351730	GM12871	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
49	CTCF	chr4:132351520-132351670	GM12872	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661
50	CTCF	chr4:132351634-132351680	GM10248	blood:	n/a	chr4:132351638-132351659 chr4:132351643-132351661

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132300589-132300639	T-47D	breast:	n/a
2	chr4:132300589-132300639	NHBE	bronchial:	n/a
3	chr4:132300589-132300639	ProgFib	skin:	n/a
4	chr4:132300589-132300639	AG04450	lung:	fetal
5	chr4:132300589-132300639	PANC-1	pancreas:	n/a
6	chr4:132300589-132300639	AoSMC	blood vessel:	n/a
7	chr4:132300589-132300639	AG09319	gingival:	n/a
8	chr4:132300589-132300639	HRCEpiC	kidney:	n/a
9	chr4:132300589-132300639	AG09309	skin:	n/a
10	chr4:132300589-132300639	U87	brain:	n/a
11	chr4:132300589-132300639	GM12891	blood:	n/a
12	chr4:132300589-132300639	H1-hESC	embryonic stem cell:	embryo
13	chr4:132300589-132300639	HRE	kidney:	n/a
14	chr4:132300589-132300639	HPAEpiC	pulmonary alveolar:	n/a
15	chr4:132300589-132300639	SKMC	muscle:	n/a
16	chr4:132300589-132300639	Caco-2	colon:	n/a
17	chr4:132300589-132300639	AG04449	skin:	fetal
18	chr4:132300589-132300639	MCF-7	breast:	n/a
19	chr4:132300589-132300639	HUVEC	blood vessel:	n/a
20	chr4:132300589-132300639	HAEpiC	amniotic membrane:	n/a
21	chr4:132300589-132300639	NT2-D1	testis:	n/a
22	chr4:132300589-132300639	IMR90	lung:	fetal
23	chr4:132300589-132300639	LNCaP	prostate:	n/a
24	chr4:132300589-132300639	GM19239	blood:	n/a
25	chr4:132300589-132300639	HEK293	kidney:	embryo
26	chr4:132300589-132300639	SK-N-SH_RA	brain:	n/a
27	chr4:132300589-132300639	HMEC	breast:	n/a
28	chr4:132300589-132300639	HL-60	blood:	n/a
29	chr4:132300589-132300639	HCM	heart:	n/a
30	chr4:132300589-132300639	ovcar-3	ovarian:	n/a
31	chr4:132300589-132300639	AG10803	skin:	n/a
32	chr4:132300589-132300639	NHDF-neo	bronchial:	n/a
33	chr4:132300589-132300639	PrEC	prostate:	n/a
34	chr4:132300589-132300639	HNPCEpiC	eye:	n/a
35	chr4:132300589-132300639	HCT-116	colon:	n/a
36	chr4:132300589-132300639	HCF	heart:	n/a
37	chr4:132300589-132300639	PFSK-1	brain:	n/a
38	chr4:132300589-132300639	MCF10A-Er-Src	breast:	n/a
39	chr4:132300589-132300639	Hela-S3	cervix:	n/a
40	chr4:132300589-132300639	HRPEpiC	eye:	n/a
41	chr4:132300589-132300639	GM12892	blood:	n/a
42	chr4:132300589-132300639	ECC-1	luminal epithelium:	n/a
43	chr4:132300589-132300639	CMK	blood:	n/a
44	chr4:132300589-132300639	HCPEpiC	choroid plexus:	n/a
45	chr4:132300589-132300639	RPTEC	kidney:	n/a
46	chr4:132300589-132300639	BJ	skin:	n/a
47	chr4:132300589-132300639	SAEC	small airway:	n/a
48	chr4:132300589-132300639	BE2_C	brain:	n/a
49	chr4:132300589-132300639	HIPEpiC	eye:	n/a
50	chr4:132300589-132300639	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:132302079..132303796-chr4:132308673..132311556,2	K562	blood:
2	chr4:132302079..132303796-chr4:132308673..132311556,2	K562	blood:
3	chr4:132287444..132289970-chr4:132292320..132294677,2	K562	blood:
4	chr4:132287444..132289970-chr4:132292320..132294677,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132301168-132301496	ENSG00000250102.1
2	lnc-PCDH10-7	chr4:132300925-132301522	NONHSAT098311

Variant related genes	Relation type
ENSG00000250102	TF binding region
ENSG00000250102	CpG island

Extended variants
information (count: 527 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:527 , 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	rs559068551	chr4:132284409-132284410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553478096	chr4:132284418-132284419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72936544	chr4:132284471-132284472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374864872	chr4:132284476-132284477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544749531	chr4:132284487-132284488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140010310	chr4:132284552-132284553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542542547	chr4:132284585-132284586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62316403	chr4:132284613-132284614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372129501	chr4:132284631-132284632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575855847	chr4:132284635-132284636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567595785	chr4:132284737-132284738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72936546	chr4:132284753-132284754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546989543	chr4:132284768-132284769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566728367	chr4:132284769-132284770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544760450	chr4:132284821-132284822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369545255	chr4:132284848-132284849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182712461	chr4:132284866-132284867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111583110	chr4:132284892-132284893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186051850	chr4:132284993-132284994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191371442	chr4:132285017-132285018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183288768	chr4:132285047-132285048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116961390	chr4:132285174-132285175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534191648	chr4:132285207-132285208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187830998	chr4:132285236-132285237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572703465	chr4:132285272-132285273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545097006	chr4:132285286-132285287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192233995	chr4:132285313-132285314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182941060	chr4:132285327-132285328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544454624	chr4:132285352-132285353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561031815	chr4:132285393-132285394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564252198	chr4:132285461-132285462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72936547	chr4:132285505-132285506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546532504	chr4:132285531-132285532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188012945	chr4:132285542-132285543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76358570	chr4:132285549-132285550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72936548	chr4:132285622-132285623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370041957	chr4:132285707-132285708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535238028	chr4:132285736-132285737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552147268	chr4:132285742-132285743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569035172	chr4:132285785-132285786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143563084	chr4:132285799-132285800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77582773	chr4:132285832-132285833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192483890	chr4:132285833-132285834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76975015	chr4:132285846-132285847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2862752	chr4:132285856-132285857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114330350	chr4:132285869-132285870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569540847	chr4:132285890-132285891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538284303	chr4:132285898-132285899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558571960	chr4:132285902-132285903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575427530	chr4:132285935-132285936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132284400-132285200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:132285200-132287600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:132287600-132288200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:132287800-132288200	Active TSS	A549	lung
5	chr4:132298000-132298400	Active TSS	A549	lung
6	chr4:132300400-132300600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:132300600-132300800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:132300600-132302200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:132300800-132302400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:132301000-132301200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:132301000-132301600	Active TSS	K562	blood
12	chr4:132301000-132302000	Active TSS	Osteobl	bone
13	chr4:132301200-132301400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:132331200-132332200	ZNF genes & repeats	Dnd41	blood
15	chr4:132331600-132332200	Active TSS	Fetal Heart	heart
16	chr4:132347200-132348200	Enhancers	GM12878-XiMat	blood
17	chr4:132348000-132348600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:132348000-132348800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:132348200-132348600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:132348400-132348800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:132350000-132350600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:132351600-132352400	Enhancers	Dnd41	blood
23	chr4:132351800-132352200	Enhancers	Hela-S3	cervix
24	chr4:132361800-132362600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:132369000-132369400	Enhancers	Fetal Brain Male	brain
26	chr4:132369200-132369600	Active TSS	Fetal Heart	heart
27	chr4:132371200-132371600	Enhancers	Dnd41	blood
28	chr4:132371600-132372200	Flanking Active TSS	Dnd41	blood
29	chr4:132371600-132372400	Active TSS	GM12878-XiMat	blood

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