Variant report

Variant	nsv1031688
Chromosome Location	chr4:142100086-142134277
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	BATF	chr4:142128509-142128822	GM12878	blood:	n/a	n/a
2	BATF	chr4:142128544-142128848	GM12878	blood:	n/a	n/a
3	CEBPB	chr4:142132166-142132225	K562	blood:	n/a	n/a
4	CEBPB	chr4:142112462-142112768	IMR90	lung:	n/a	chr4:142112603-142112614 chr4:142112604-142112615
5	CEBPB	chr4:142112459-142112753	A549	lung:	n/a	chr4:142112603-142112614 chr4:142112604-142112615
6	CEBPB	chr4:142118271-142118579	K562	blood:	n/a	chr4:142118423-142118436 chr4:142118424-142118435 chr4:142118423-142118436 chr4:142118423-142118434 chr4:142118423-142118434
7	CEBPB	chr4:142112477-142112747	HepG2	liver:	n/a	chr4:142112603-142112614 chr4:142112604-142112615
8	CEBPB	chr4:142118302-142118598	HepG2	liver:	n/a	chr4:142118423-142118436 chr4:142118424-142118435 chr4:142118423-142118436 chr4:142118423-142118434 chr4:142118423-142118434
9	CTCF	chr4:142104700-142104850	GM06990	blood:	n/a	n/a
10	CTCF	chr4:142100740-142100890	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr4:142104740-142104890	HEK293	kidney:	n/a	n/a
12	CTCF	chr4:142104845-142104861	K562	blood:	n/a	n/a
13	CTCF	chr4:142104829-142104898	Medullo	brain:	n/a	n/a
14	CTCF	chr4:142127960-142128110	GM12864	blood:	n/a	n/a
15	CTCF	chr4:142104780-142104957	K562	blood:	n/a	n/a
16	CTCF	chr4:142104787-142104903	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr4:142104834-142104851	GM12878	blood:	n/a	n/a
18	CTCF	chr4:142110791-142110806	Spleen_OC	spleen:	n/a	n/a
19	CTCF	chr4:142104700-142104850	HFF-Myc	foreskin:	n/a	n/a
20	CTCF	chr4:142104700-142104850	BE2_C	brain:	n/a	n/a
21	CTCF	chr4:142100780-142100930	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr4:142104700-142104850	GM12866	blood:	n/a	n/a
23	CTCF	chr4:142104700-142104850	K562	blood:	n/a	n/a
24	CTCF	chr4:142104680-142104830	BE2_C	brain:	n/a	n/a
25	CTCF	chr4:142104720-142104870	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr4:142104842-142104872	GM19240	blood:	n/a	n/a
27	CTCF	chr4:142104740-142104890	HepG2	liver:	n/a	n/a
28	CTCF	chr4:142100760-142100910	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr4:142104740-142104890	HCT-116	colon:	n/a	n/a
30	CTCF	chr4:142104740-142104890	GM12868	blood:	n/a	n/a
31	EP300	chr4:142100531-142101084	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr4:142100399-142101472	SK-N-SH	brain:	n/a	chr4:142101079-142101089
33	EP300	chr4:142100589-142101040	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr4:142132277-142132563	SK-N-SH_RA	brain:	n/a	chr4:142132343-142132351 chr4:142132351-142132361
35	EP300	chr4:142132315-142132647	SK-N-SH_RA	brain:	n/a	chr4:142132343-142132351 chr4:142132351-142132361
36	FOS	chr4:142102671-142102790	MCF10A-Er-Src	breast:	n/a	chr4:142102722-142102729
37	GATA2	chr4:142100557-142101340	SH-SY5Y	brain:	n/a	n/a
38	GATA2	chr4:142114551-142115038	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr4:142100470-142101147	SH-SY5Y	brain:	n/a	chr4:142100471-142100487 chr4:142100471-142100487
40	GATA3	chr4:142114714-142114995	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr4:142100472-142101161	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr4:142116007-142116151	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr4:142100593-142101049	SK-N-SH	brain:	n/a	n/a
44	IRF1	chr4:142117834-142117869	K562	blood:	n/a	n/a
45	JUND	chr4:142117790-142118127	HepG2	liver:	n/a	chr4:142117950-142117959 chr4:142117950-142117957 chr4:142117949-142117958 chr4:142117951-142117962 chr4:142117948-142117960 chr4:142117948-142117959 chr4:142117949-142117959
46	JUND	chr4:142117642-142118166	SK-N-SH	brain:	n/a	chr4:142117950-142117959 chr4:142117950-142117957 chr4:142117949-142117958 chr4:142117951-142117962 chr4:142117948-142117960 chr4:142117948-142117959 chr4:142117949-142117959
47	MAFF	chr4:142123543-142123555	HepG2	liver:	n/a	n/a
48	MAFK	chr4:142123489-142123574	HepG2	liver:	n/a	n/a
49	MAFK	chr4:142117925-142118069	HepG2	liver:	n/a	chr4:142117965-142117980 chr4:142117966-142117976
50	MAFK	chr4:142117562-142117651	HepG2	liver:	n/a	chr4:142117593-142117604

No.	Distal block	Cell Line	Cell type
1	chr4:142104216..142106069-chr4:142146654..142148971,2	MCF-7	breast:
2	chr4:142096376..142097958-chr4:142099459..142101460,2	K562	blood:
3	chr4:142116253..142118319-chr4:142120950..142123084,2	K562	blood:
4	chr4:142116253..142118319-chr4:142120950..142123084,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF330-2	chr4:142128797-142130411	NONHSAT098516
2	lnc-ZNF330-2	chr4:142129715-142130140	NONHSAT098517
3	lnc-ZNF330-2	chr4:142133211-142133249	NONHSAT098517

Variant related genes	Relation type
RNF150	TF binding region

Extended variants
information (count: 613 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181679616	chr4:142101207-142101208	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs555145972	chr4:142101212-142101213	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs200431314	chr4:142101213-142101214	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs568190843	chr4:142101217-142101218	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs184094532	chr4:142101232-142101233	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs551114164	chr4:142101234-142101235	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs150946100	chr4:142101318-142101319	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs200835042	chr4:142101322-142101323	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs368337614	chr4:142101345-142101346	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs551777188	chr4:142101356-142101357	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs566508236	chr4:142101374-142101375	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs533746427	chr4:142101375-142101376	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs34034213	chr4:142101378-142101379	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs371644218	chr4:142101386-142101387	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs36062854	chr4:142101395-142101396	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs188729421	chr4:142101431-142101432	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs544091230	chr4:142101432-142101433	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs573741660	chr4:142101459-142101460	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs538045337	chr4:142101469-142101470	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs556274107	chr4:142101471-142101472	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs2572238	chr4:142101479-142101480	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545324133	chr4:142101483-142101484	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs540824927	chr4:142101510-142101511	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs560169284	chr4:142101517-142101518	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs116333767	chr4:142101549-142101550	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs540202262	chr4:142101562-142101563	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs75658769	chr4:142101810-142101811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533784204	chr4:142101841-142101842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548956249	chr4:142101882-142101883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561121498	chr4:142101939-142101940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185998642	chr4:142102004-142102005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371708570	chr4:142102024-142102025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191198804	chr4:142102037-142102038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577799725	chr4:142102038-142102039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150448331	chr4:142102068-142102069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145360645	chr4:142102081-142102082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182121393	chr4:142102112-142102113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115452116	chr4:142102123-142102124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1836552	chr4:142102145-142102146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573689802	chr4:142102150-142102151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544726003	chr4:142102159-142102160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562820237	chr4:142102200-142102201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533595104	chr4:142102203-142102204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551647929	chr4:142102213-142102214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187596572	chr4:142102319-142102320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527939835	chr4:142102363-142102364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528242009	chr4:142102372-142102373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190437285	chr4:142102386-142102387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17006959	chr4:142102461-142102462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs182939350	chr4:142102509-142102510	Enhancers	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
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
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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142101200-142101600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:142101800-142103200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:142102200-142103200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:142109800-142110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:142109800-142110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:142111400-142112200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:142113800-142114600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:142113800-142117000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr4:142114600-142115800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:142115800-142118000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:142116000-142116200	Enhancers	Liver	Liver
12	chr4:142116000-142116800	Enhancers	Adipose Nuclei	Adipose
13	chr4:142116200-142116400	Flanking Active TSS	Liver	Liver
14	chr4:142116200-142116400	Enhancers	Psoas Muscle	Psoas
15	chr4:142116400-142116600	Enhancers	Liver	Liver
16	chr4:142116400-142116800	Enhancers	Fetal Muscle Leg	muscle
17	chr4:142116600-142116800	Flanking Active TSS	Liver	Liver
18	chr4:142116800-142117800	Enhancers	Liver	Liver
19	chr4:142117000-142117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:142117400-142118000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:142124800-142125400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:142125400-142128600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:142128000-142128200	Enhancers	Brain Anterior Caudate	brain
24	chr4:142128400-142130000	Weak transcription	Brain Anterior Caudate	brain
25	chr4:142128600-142129000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:142129000-142129600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:142129000-142129800	Enhancers	GM12878-XiMat	blood
28	chr4:142129200-142129400	Enhancers	Liver	Liver
29	chr4:142129200-142129600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:142129200-142129600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr4:142129400-142129600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:142129400-142129800	Flanking Active TSS	Liver	Liver
33	chr4:142129600-142130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:142130000-142130200	Enhancers	Brain Anterior Caudate	brain
35	chr4:142130200-142133400	Weak transcription	Brain Anterior Caudate	brain
36	chr4:142131400-142132200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:142133200-142134000	Active TSS	Adipose Nuclei	Adipose
38	chr4:142133400-142133800	Active TSS	Brain Hippocampus Middle	brain
39	chr4:142133400-142134000	Active TSS	Brain Anterior Caudate	brain
40	chr4:142133800-142141400	Weak transcription	Brain Hippocampus Middle	brain

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