Variant report

Variant	nsv4591
Chromosome Location	chr4:167135209-167180366
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	CEBPB	chr4:167178471-167178706	A549	lung:	n/a	n/a
2	CEBPB	chr4:167178473-167178631	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr4:167178451-167178706	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:167178451-167178734	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:167150082-167150360	HepG2	liver:	n/a	chr4:167150191-167150202 chr4:167150190-167150203 chr4:167150190-167150201 chr4:167150164-167150175 chr4:167150190-167150203
6	CEBPB	chr4:167178506-167178746	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr4:167174009-167174214	A549	lung:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
8	CTCF	chr4:167174040-167174190	HA-sp	spinal cord:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
9	CTCF	chr4:167174053-167174245	GM13977	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
10	CTCF	chr4:167174080-167174230	HepG2	liver:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
11	CTCF	chr4:167174100-167174250	AG10803	skin:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
12	CTCF	chr4:167174080-167174230	NHDF-neo	bronchial:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
13	CTCF	chr4:167173995-167174230	HepG2	liver:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
14	CTCF	chr4:167174120-167174270	AG04450	lung:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
15	CTCF	chr4:167174118-167174218	GM12892	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
16	CTCF	chr4:167174100-167174250	HCFaa	heart:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
17	CTCF	chr4:167174160-167174310	HCT-116	colon:	n/a	n/a
18	CTCF	chr4:167174060-167174210	HAc	cerebellar:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
19	CTCF	chr4:167174025-167174261	Spleen_OC	spleen:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
20	CTCF	chr4:167174034-167174250	Hela-S3	cervix:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
21	CTCF	chr4:167174060-167174210	AoAF	blood vessel:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
22	CTCF	chr4:167174022-167174235	Kidney_OC	kidney:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
23	CTCF	chr4:167174080-167174230	HMEC	breast:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
24	CTCF	chr4:167174060-167174210	NHLF	lung:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
25	CTCF	chr4:167174283-167174284	Medullo	brain:	n/a	n/a
26	CTCF	chr4:167174100-167174250	AG09319	gingival:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
27	CTCF	chr4:167148320-167148470	GM12869	blood:	n/a	n/a
28	CTCF	chr4:167173985-167174286	HUVEC	blood vessel:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
29	CTCF	chr4:167174100-167174250	GM12872	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
30	CTCF	chr4:167174077-167174223	GM20000	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
31	CTCF	chr4:167174060-167174210	HMEC	breast:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
32	CTCF	chr4:167174060-167174210	Caco-2	colon:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
33	CTCF	chr4:167174080-167174230	Hela-S3	cervix:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
34	CTCF	chr4:167174080-167174230	GM12875	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
35	CTCF	chr4:167174040-167174190	A549	lung:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
36	CTCF	chr4:167173968-167174266	H1-hESC	embryonic stem cell:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
37	CTCF	chr4:167174066-167174227	Pancreas_OC	pancreas:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
38	CTCF	chr4:167174080-167174230	GM06990	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
39	CTCF	chr4:167174000-167174150	AG04450	lung:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
40	CTCF	chr4:167174060-167174210	GM12867	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
41	CTCF	chr4:167174080-167174230	HPAF	blood vessel:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
42	CTCF	chr4:167174060-167174210	GM12878	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
43	CTCF	chr4:167174134-167174208	H1-hESC	embryonic stem cell:	n/a	chr4:167174135-167174145 chr4:167174138-167174147
44	CTCF	chr4:167174040-167174190	Hela-S3	cervix:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
45	CTCF	chr4:167174118-167174219	MCF-7	breast:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
46	CTCF	chr4:167174036-167174264	GM12878	blood:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
47	CTCF	chr4:167173858-167174366	SK-N-SH	brain:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
48	CTCF	chr4:167174020-167174282	Medullo	brain:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
49	CTCF	chr4:167174029-167174262	LNCaP	prostate:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147
50	CTCF	chr4:167174060-167174210	HUVEC	blood vessel:	n/a	chr4:167174135-167174145 chr4:167174132-167174150 chr4:167174127-167174148 chr4:167174133-167174149 chr4:167174138-167174147

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:167086669..167087587-chr4:167173432..167174252,3	MCF-7	breast:
2	chr4:167086659..167087619-chr4:167173764..167174746,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266254	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77665686	chr4:167144478-167144479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374707584	chr4:167144507-167144508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530524903	chr4:167144528-167144529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574283847	chr4:167144542-167144543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182838729	chr4:167144543-167144544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535312327	chr4:167144558-167144559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550644364	chr4:167144631-167144632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185508898	chr4:167145168-167145169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566730768	chr4:167145175-167145176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs164811	chr4:167145191-167145192	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188831882	chr4:167145207-167145208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567376008	chr4:167145274-167145275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549289088	chr4:167147715-167147716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567597330	chr4:167147749-167147750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs537760778	chr4:167147771-167147772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549715983	chr4:167147777-167147778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs72980354	chr4:167148348-167148349	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538289914	chr4:167148413-167148414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs78889045	chr4:167148422-167148423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs379674	chr4:167148439-167148440	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs36097998	chr4:167148488-167148489	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs535949062	chr4:167148517-167148518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147253114	chr4:167148646-167148647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187192539	chr4:167148647-167148648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs138414850	chr4:167148677-167148678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190531841	chr4:167148742-167148743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs183356712	chr4:167148745-167148746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs574952938	chr4:167148824-167148825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542364880	chr4:167148825-167148826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561115514	chr4:167148828-167148829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs72980355	chr4:167148829-167148830	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374459521	chr4:167148833-167148834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543693871	chr4:167148868-167148869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs554521222	chr4:167148885-167148886	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs56205586	chr4:167148916-167148917	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565095852	chr4:167149402-167149403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs532243176	chr4:167149410-167149411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540950926	chr4:167149416-167149417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113129094	chr4:167149424-167149425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529677484	chr4:167149459-167149460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548259137	chr4:167149463-167149464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186493669	chr4:167149488-167149489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375368354	chr4:167149513-167149514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191290124	chr4:167149523-167149524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556832701	chr4:167149524-167149525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1037017	chr4:167149552-167149553	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7696069	chr4:167149561-167149562	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535313341	chr4:167149574-167149575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371543946	chr4:167176216-167176217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184955389	chr4:167176275-167176276	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167149400-167149600	ZNF genes & repeats	Gastric	stomach
2	chr4:167176200-167176800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:167176800-167177400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:167179000-167179400	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links