Variant report

Variant	nsv1026146
Chromosome Location	chr4:132419151-132547426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:344)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:132468655-132469308	GM12878	blood:	n/a	n/a
2	ATF2	chr4:132534989-132535386	GM12878	blood:	n/a	n/a
3	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
4	BATF	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
5	BCL11A	chr4:132469009-132469193	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
7	BCLAF1	chr4:132468685-132469223	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:132468935-132469065	GM12878	blood:	n/a	n/a
9	BHLHE40	chr4:132534939-132535181	GM12878	blood:	n/a	n/a
10	CEBPB	chr4:132420242-132420692	IMR90	lung:	n/a	n/a
11	CEBPB	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
12	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
13	CEBPB	chr4:132516355-132516626	H1-hESC	embryonic stem cell:	n/a	chr4:132516490-132516501
14	CEBPB	chr4:132516303-132516638	A549	lung:	n/a	chr4:132516490-132516501
15	CEBPB	chr4:132505792-132506151	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
17	CEBPB	chr4:132531615-132532170	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr4:132516327-132516658	K562	blood:	n/a	chr4:132516490-132516501
19	CEBPB	chr4:132516266-132516683	IMR90	lung:	n/a	chr4:132516490-132516501
20	CEBPB	chr4:132531759-132532044	IMR90	lung:	n/a	n/a
21	CEBPB	chr4:132516323-132516647	HepG2	liver:	n/a	chr4:132516490-132516501
22	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
23	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
24	CEBPB	chr4:132505940-132505989	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr4:132531765-132531965	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr4:132434674-132434726	HepG2	liver:	n/a	n/a
27	CTCF	chr4:132471808-132471857	Medullo	brain:	n/a	n/a
28	CTCF	chr4:132504240-132504390	NHEK	skin:	n/a	n/a
29	CTCF	chr4:132461480-132461630	MCF-7	breast:	n/a	n/a
30	CTCF	chr4:132511416-132511417	LNCaP	prostate:	n/a	n/a
31	CTCF	chr4:132508720-132508870	HepG2	liver:	n/a	n/a
32	CTCF	chr4:132501629-132501652	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr4:132499798-132499863	GM13976	blood:	n/a	n/a
34	CTCF	chr4:132420740-132420890	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr4:132504040-132504190	BE2_C	brain:	n/a	n/a
36	CTCF	chr4:132438800-132438950	GM12872	blood:	n/a	n/a
37	CTCF	chr4:132438960-132439110	GM12874	blood:	n/a	n/a
38	CTCF	chr4:132441967-132442092	Lung_OC	lung:	n/a	n/a
39	CTCF	chr4:132504220-132504370	BE2_C	brain:	n/a	n/a
40	CTCF	chr4:132504100-132504250	HEK293	kidney:	n/a	n/a
41	CTCF	chr4:132504180-132504330	SAEC	small airway:	n/a	n/a
42	CTCF	chr4:132438900-132439050	NHEK	skin:	n/a	n/a
43	CTCF	chr4:132438900-132439050	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:132521997-132522117	Fibrobl	skin:	n/a	n/a
45	CTCF	chr4:132512400-132512550	GM12869	blood:	n/a	n/a
46	CTCF	chr4:132505960-132506036	ProgFib	skin:	n/a	n/a
47	E2F4	chr4:132536352-132536577	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr4:132528573-132528574	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr4:132464922-132465333	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr4:132531020-132531063	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
2	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
3	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132449215-132449276	ENSG00000250102.1
2	lnc-PCDH10-7	chr4:132448385-132448443	NONHSAT098311
3	lnc-PCDH10-7	chr4:132448385-132448443	ENSG00000250102.1
4	lnc-PCDH10-7	chr4:132444075-132444163	ENSG00000250102.1
5	lnc-PCDH10-7	chr4:132449215-132449276	NONHSAT098311
6	lnc-PCDH10-7	chr4:132448385-132448443	ENSG00000250102.1
7	lnc-PCDH10-7	chr4:132462296-132462552	ENSG00000250102.1
8	lnc-PCDH10-17	chr4:132461436-132461644	NONHSAT098315

No data

Variant related genes	Relation type
ENSG00000248715	TF binding region

Extended variants
information (count: 2236 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2236 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536176312	chr4:132419164-132419165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193207271	chr4:132419170-132419171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185554337	chr4:132419187-132419188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369188568	chr4:132419222-132419223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137979267	chr4:132419335-132419336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190807649	chr4:132419337-132419338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181493818	chr4:132419340-132419341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569394028	chr4:132419348-132419349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538421036	chr4:132419377-132419378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548929467	chr4:132419464-132419465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544513267	chr4:132419542-132419543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545089943	chr4:132419562-132419563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534461902	chr4:132419623-132419624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185981793	chr4:132419717-132419718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11301722	chr4:132419750-132419751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572751862	chr4:132419824-132419825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149098351	chr4:132419950-132419951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143108539	chr4:132420079-132420080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575381049	chr4:132420102-132420103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544372355	chr4:132420141-132420142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560718427	chr4:132420188-132420189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574406264	chr4:132420197-132420198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75005873	chr4:132420213-132420214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148625380	chr4:132420214-132420215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188428499	chr4:132420261-132420262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551266289	chr4:132420290-132420291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376078741	chr4:132420292-132420293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181244026	chr4:132420294-132420295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2662070	chr4:132420297-132420298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552426762	chr4:132420298-132420299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562981217	chr4:132420299-132420300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531685505	chr4:132420309-132420310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148275669	chr4:132420406-132420407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141314635	chr4:132420429-132420430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369695725	chr4:132420455-132420456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74482822	chr4:132420458-132420459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553275008	chr4:132420473-132420474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527994795	chr4:132420486-132420487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577328255	chr4:132420508-132420509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111489859	chr4:132420514-132420515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548106522	chr4:132420525-132420526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566384843	chr4:132420590-132420591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533596390	chr4:132420626-132420627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184910452	chr4:132420647-132420648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75807550	chr4:132420689-132420690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72690121	chr4:132420758-132420759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568953881	chr4:132420776-132420777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537511288	chr4:132420777-132420778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369506297	chr4:132420778-132420779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554349722	chr4:132420801-132420802	Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132417400-132420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:132418600-132419200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:132420200-132421200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:132420600-132421200	Enhancers	HMEC	breast
5	chr4:132420800-132421200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:132420800-132421200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:132420800-132421200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:132420800-132421200	Enhancers	HSMMtube	muscle
9	chr4:132420800-132421200	Enhancers	NH-A	brain
10	chr4:132430400-132431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:132435400-132436200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr4:132435600-132436200	Enhancers	Dnd41	blood
13	chr4:132436200-132436600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:132436600-132437600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:132447600-132447800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:132447800-132452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:132449600-132450400	Enhancers	Dnd41	blood
18	chr4:132452400-132452800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:132452800-132456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:132453400-132453600	Enhancers	Fetal Kidney	kidney
21	chr4:132453600-132455600	Weak transcription	Fetal Kidney	kidney
22	chr4:132455600-132455800	Flanking Active TSS	Fetal Kidney	kidney
23	chr4:132455800-132456000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:132455800-132456000	Active TSS	Fetal Kidney	kidney
25	chr4:132456000-132456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:132456000-132456400	Flanking Active TSS	Fetal Kidney	kidney
27	chr4:132456000-132457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:132456400-132456600	Enhancers	Fetal Kidney	kidney
29	chr4:132457800-132459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
31	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
32	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
33	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
35	chr4:132487000-132487800	Enhancers	HMEC	breast
36	chr4:132487000-132488000	Enhancers	NHEK	skin
37	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
40	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
42	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea
43	chr4:132504600-132506200	ZNF genes & repeats	Dnd41	blood
44	chr4:132505000-132505400	Enhancers	NHEK	skin
45	chr4:132505000-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:132505000-132506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:132505000-132506200	Enhancers	HMEC	breast
48	chr4:132505200-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:132505400-132505800	Enhancers	Esophagus	oesophagus
50	chr4:132505400-132505800	Flanking Active TSS	NHEK	skin

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