Variant report

Variant	nsv879976
Chromosome Location	chr4:132448906-132595111
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	chr4:132534989-132535386	GM12878	blood:	n/a	n/a
2	ATF2	chr4:132468655-132469308	GM12878	blood:	n/a	n/a
3	BATF	chr4:132468793-132469303	GM12878	blood:	n/a	n/a
4	BATF	chr4:132584215-132584596	GM12878	blood:	n/a	n/a
5	BATF	chr4:132584050-132584633	GM12878	blood:	n/a	n/a
6	BATF	chr4:132579714-132580021	GM12878	blood:	n/a	n/a
7	BATF	chr4:132579445-132580058	GM12878	blood:	n/a	n/a
8	BATF	chr4:132469892-132470158	GM12878	blood:	n/a	chr4:132470014-132470025 chr4:132469980-132469991
9	BCL11A	chr4:132579674-132579989	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:132468778-132469283	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:132584212-132584619	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:132579505-132580074	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:132469009-132469193	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:132584240-132584512	GM12878	blood:	n/a	n/a
15	BCLAF1	chr4:132468685-132469223	GM12878	blood:	n/a	n/a
16	BHLHE40	chr4:132534939-132535181	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:132468935-132469065	GM12878	blood:	n/a	n/a
18	CEBPB	chr4:132466384-132466785	IMR90	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
19	CEBPB	chr4:132516327-132516658	K562	blood:	n/a	chr4:132516490-132516501
20	CEBPB	chr4:132516355-132516626	H1-hESC	embryonic stem cell:	n/a	chr4:132516490-132516501
21	CEBPB	chr4:132531615-132532170	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr4:132505792-132506151	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr4:132466355-132466748	HepG2	liver:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
24	CEBPB	chr4:132505940-132505989	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr4:132516303-132516638	A549	lung:	n/a	chr4:132516490-132516501
26	CEBPB	chr4:132464778-132465054	HepG2	liver:	n/a	chr4:132464923-132464934
27	CEBPB	chr4:132464782-132465069	IMR90	lung:	n/a	chr4:132464923-132464934
28	CEBPB	chr4:132516323-132516647	HepG2	liver:	n/a	chr4:132516490-132516501
29	CEBPB	chr4:132531759-132532044	IMR90	lung:	n/a	n/a
30	CEBPB	chr4:132466435-132466751	A549	lung:	n/a	chr4:132466496-132466509 chr4:132466497-132466508
31	CEBPB	chr4:132516266-132516683	IMR90	lung:	n/a	chr4:132516490-132516501
32	CHD2	chr4:132531765-132531965	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr4:132565880-132566030	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr4:132565860-132566010	GM12865	blood:	n/a	n/a
35	CTCF	chr4:132566220-132566370	SAEC	small airway:	n/a	n/a
36	CTCF	chr4:132565900-132566050	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr4:132565900-132566050	GM12875	blood:	n/a	n/a
38	CTCF	chr4:132565980-132566130	HVMF	connective:	n/a	n/a
39	CTCF	chr4:132565960-132566110	GM12871	blood:	n/a	n/a
40	CTCF	chr4:132565856-132566048	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr4:132565833-132566064	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr4:132565880-132566030	A549	lung:	n/a	n/a
43	CTCF	chr4:132565800-132565950	GM12870	blood:	n/a	n/a
44	CTCF	chr4:132504240-132504390	NHEK	skin:	n/a	n/a
45	CTCF	chr4:132565820-132565970	GM12867	blood:	n/a	n/a
46	CTCF	chr4:132565731-132566213	HCT-116	colon:	n/a	n/a
47	CTCF	chr4:132565944-132566039	GM20000	blood:	n/a	n/a
48	CTCF	chr4:132565880-132566030	GM12872	blood:	n/a	n/a
49	CTCF	chr4:132504040-132504190	BE2_C	brain:	n/a	n/a
50	CTCF	chr4:132565860-132566058	GM19239	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:15257912..15258445-chr4:132538874..132539729,2	MCF-7	breast:
2	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
3	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:
4	chr4:132387674..132388400-chr4:132565905..132566424,2	MCF-7	breast:
5	chr4:132012841..132013396-chr4:132565892..132566443,2	MCF-7	breast:
6	chr4:132564996..132567264-chr4:132571046..132573271,2	K562	blood:
7	chr4:132495865..132498860-chr4:132534309..132536542,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-7	chr4:132449215-132449276	NONHSAT098311
2	lnc-PCDH10-17	chr4:132461436-132461644	NONHSAT098315
3	lnc-PCDH10-7	chr4:132449215-132449276	ENSG00000250102.1
4	lnc-PCDH10-7	chr4:132462296-132462552	ENSG00000250102.1

Variant related genes	Relation type
ENSG00000248715	TF binding region

Extended variants
information (count: 2254 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2254 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17051210	chr4:132448906-132448907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576286764	chr4:132448927-132448928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543805886	chr4:132448929-132448930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560540825	chr4:132448962-132448963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145312167	chr4:132448969-132448970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539926831	chr4:132449126-132449127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565397844	chr4:132449162-132449163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186293431	chr4:132449174-132449175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567143749	chr4:132449175-132449176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6534843	chr4:132449197-132449198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17051211	chr4:132449211-132449212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545255468	chr4:132449257-132449258	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs77757271	chr4:132449303-132449304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190221077	chr4:132449319-132449320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548650292	chr4:132449347-132449348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568448268	chr4:132449348-132449349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560462885	chr4:132449355-132449356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182113106	chr4:132449359-132449360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185147623	chr4:132449372-132449373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547890536	chr4:132449392-132449393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572680519	chr4:132449448-132449449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190742014	chr4:132449543-132449544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570821358	chr4:132449593-132449594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527548513	chr4:132449704-132449705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10010261	chr4:132449718-132449719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183910029	chr4:132449760-132449761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372293953	chr4:132449820-132449821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147637290	chr4:132449853-132449854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199734491	chr4:132449854-132449855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535735402	chr4:132449856-132449857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554180149	chr4:132449936-132449937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574075779	chr4:132449938-132449939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141588637	chr4:132449960-132449961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549576864	chr4:132449977-132449978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116821896	chr4:132449984-132449985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569320162	chr4:132449990-132449991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531361757	chr4:132450020-132450021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576823636	chr4:132450033-132450034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375287326	chr4:132450124-132450125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189254837	chr4:132450136-132450137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192879685	chr4:132450138-132450139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114505557	chr4:132450248-132450249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542122150	chr4:132450256-132450257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538840014	chr4:132450303-132450304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116219193	chr4:132450328-132450329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561936707	chr4:132450349-132450350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145349068	chr4:132450358-132450359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547433554	chr4:132450374-132450375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557410513	chr4:132450440-132450441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570925848	chr4:132450460-132450461	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132447800-132452400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:132449600-132450400	Enhancers	Dnd41	blood
3	chr4:132452400-132452800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:132452800-132456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:132453400-132453600	Enhancers	Fetal Kidney	kidney
6	chr4:132453600-132455600	Weak transcription	Fetal Kidney	kidney
7	chr4:132455600-132455800	Flanking Active TSS	Fetal Kidney	kidney
8	chr4:132455800-132456000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:132455800-132456000	Active TSS	Fetal Kidney	kidney
10	chr4:132456000-132456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:132456000-132456400	Flanking Active TSS	Fetal Kidney	kidney
12	chr4:132456000-132457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:132456400-132456600	Enhancers	Fetal Kidney	kidney
14	chr4:132457800-132459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:132468600-132471000	ZNF genes & repeats	GM12878-XiMat	blood
16	chr4:132471000-132472400	Weak transcription	GM12878-XiMat	blood
17	chr4:132472400-132472800	Enhancers	GM12878-XiMat	blood
18	chr4:132484400-132487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:132485400-132486000	Active TSS	Fetal Heart	heart
20	chr4:132487000-132487800	Enhancers	HMEC	breast
21	chr4:132487000-132488000	Enhancers	NHEK	skin
22	chr4:132487200-132487600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:132487400-132487800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:132487400-132488000	Enhancers	Pancreas	Pancrea
25	chr4:132487800-132491600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:132488000-132488400	Weak transcription	Pancreas	Pancrea
27	chr4:132488400-132488800	Enhancers	Pancreas	Pancrea
28	chr4:132504600-132506200	ZNF genes & repeats	Dnd41	blood
29	chr4:132505000-132505400	Enhancers	NHEK	skin
30	chr4:132505000-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:132505000-132506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:132505000-132506200	Enhancers	HMEC	breast
33	chr4:132505200-132505800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:132505400-132505800	Enhancers	Esophagus	oesophagus
35	chr4:132505400-132505800	Flanking Active TSS	NHEK	skin
36	chr4:132505800-132506600	Enhancers	NHEK	skin
37	chr4:132505800-132508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:132506000-132506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:132506400-132506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:132506600-132525800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:132524600-132526000	Enhancers	NHEK	skin
42	chr4:132524800-132526000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:132524800-132526200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:132525800-132526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr4:132525800-132526800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:132526000-132531200	Weak transcription	NHEK	skin
47	chr4:132526000-132533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:132526200-132526600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:132526600-132526800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:132526800-132529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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