Variant report

Variant	nsv967809
Chromosome Location	chr4:166131906-166137884
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	ATF1	chr4:166136611-166136816	K562	blood:	n/a	n/a
2	BATF	chr4:166136516-166136844	GM12878	blood:	n/a	chr4:166136710-166136721 chr4:166136711-166136721
3	BATF	chr4:166136495-166136919	GM12878	blood:	n/a	chr4:166136710-166136721 chr4:166136711-166136721
4	BCL11A	chr4:166136479-166136838	GM12878	blood:	n/a	chr4:166136710-166136719
5	CEBPB	chr4:166136527-166136727	A549	lung:	n/a	n/a
6	CEBPB	chr4:166136601-166136886	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr4:166133861-166134109	HepG2	liver:	n/a	n/a
8	CTCF	chr4:166133959-166134020	GM10266	blood:	n/a	n/a
9	CTCF	chr4:166133943-166133984	K562	blood:	n/a	n/a
10	CTCF	chr4:166133953-166134035	K562	blood:	n/a	n/a
11	CTCF	chr4:166133820-166133970	HRE	kidney:	n/a	n/a
12	CTCF	chr4:166133920-166134070	HepG2	liver:	n/a	n/a
13	CTCF	chr4:166134026-166134034	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr4:166133900-166134050	HRE	kidney:	n/a	n/a
15	CTCF	chr4:166133920-166134070	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr4:166133921-166134068	GM10248	blood:	n/a	n/a
17	CTCF	chr4:166133930-166134040	HepG2	liver:	n/a	n/a
18	CTCF	chr4:166133828-166134143	GM12878	blood:	n/a	n/a
19	EP300	chr4:166136500-166136792	SK-N-SH_RA	brain:	n/a	chr4:166136710-166136719
20	EP300	chr4:166136596-166136842	SK-N-SH_RA	brain:	n/a	chr4:166136710-166136719
21	EP300	chr4:166136925-166137119	GM12878	blood:	n/a	n/a
22	EP300	chr4:166131545-166132213	T-47D	breast:	n/a	chr4:166132123-166132133 chr4:166131877-166131886
23	FOS	chr4:166134608-166134846	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:166132936-166133224	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:166136521-166136902	MCF10A-Er-Src	breast:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136708-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719
26	FOS	chr4:166134611-166134763	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:166136523-166136913	HUVEC	blood vessel:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136708-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719
28	FOS	chr4:166136535-166136902	MCF10A-Er-Src	breast:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136708-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719
29	FOS	chr4:166136535-166136834	MCF10A-Er-Src	breast:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136708-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719
30	FOS	chr4:166136518-166136902	MCF10A-Er-Src	breast:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136708-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136709-166136719
31	FOS	chr4:166134570-166134936	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:166134591-166134932	MCF10A-Er-Src	breast:	n/a	n/a
33	FOSL2	chr4:166136520-166136916	HepG2	liver:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136707-166136718 chr4:166136709-166136719 chr4:166136709-166136719
34	FOSL2	chr4:166136525-166136797	A549	lung:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136707-166136718 chr4:166136709-166136719 chr4:166136709-166136719
35	FOSL2	chr4:166136481-166136868	HepG2	liver:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136707-166136718 chr4:166136709-166136719 chr4:166136709-166136719
36	FOSL2	chr4:166136520-166136987	A549	lung:	n/a	chr4:166136708-166136720 chr4:166136709-166136718 chr4:166136709-166136719 chr4:166136709-166136719 chr4:166136707-166136718 chr4:166136709-166136719 chr4:166136709-166136719
37	FOXA1	chr4:166131565-166132072	T-47D	breast:	n/a	n/a
38	FOXA1	chr4:166136495-166136865	HepG2	liver:	n/a	n/a
39	FOXA1	chr4:166131654-166132092	T-47D	breast:	n/a	n/a
40	FOXA2	chr4:166136494-166136906	A549	lung:	n/a	n/a
41	FOXA2	chr4:166136465-166136875	A549	lung:	n/a	n/a
42	FOXM1	chr4:166136452-166137490	GM12878	blood:	n/a	n/a
43	FOXM1	chr4:166131671-166132081	MCF-7	breast:	n/a	n/a
44	GATA3	chr4:166131494-166132179	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr4:166131471-166132158	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr4:166131566-166132179	T-47D	breast:	n/a	n/a
47	GATA3	chr4:166131725-166131985	MCF-7	breast:	n/a	n/a
48	GATA3	chr4:166131639-166132174	T-47D	breast:	n/a	n/a
49	GATA3	chr4:166131434-166132215	MCF-7	breast:	n/a	n/a
50	GATA3	chr4:166131532-166132271	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:166128687..166131040-chr4:166134641..166136859,3	MCF-7	breast:
2	chr4:166127800..166130090-chr4:166130347..166132969,2	MCF-7	breast:
3	chr4:166031817..166034229-chr4:166129496..166132218,3	K562	blood:
4	chr4:166131315..166133290-chr4:166248025..166250572,2	MCF-7	breast:

Variant related genes	Relation type
TMEM192	TF binding region
KLHL2	TF binding region
ENSG00000052802	chromatin interactions
ENSG00000109466	chromatin interactions
ENSG00000170088	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562761063	chr4:166131969-166131970	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs577872643	chr4:166131973-166131974	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs545158319	chr4:166132069-166132070	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs529365699	chr4:166132098-166132099	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs71724471	chr4:166132099-166132100	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs560364145	chr4:166132152-166132153	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs148150141	chr4:166132194-166132195	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs549492398	chr4:166132212-166132213	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs141935475	chr4:166132237-166132238	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs531687120	chr4:166132238-166132239	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs527376485	chr4:166132405-166132406	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs114439795	chr4:166132417-166132418	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs150238517	chr4:166132442-166132443	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs372569691	chr4:166132458-166132459	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs372500400	chr4:166132467-166132468	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs138953701	chr4:166132519-166132520	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs143271979	chr4:166132549-166132550	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs147457561	chr4:166132598-166132599	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs3857013	chr4:166132606-166132607	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs139866763	chr4:166132636-166132637	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539719812	chr4:166132686-166132687	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs367608844	chr4:166132688-166132689	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs2137529	chr4:166132705-166132706	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs573662740	chr4:166132725-166132726	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs3901486	chr4:166132731-166132732	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs531041636	chr4:166132746-166132747	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs1986031	chr4:166132772-166132773	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs7688782	chr4:166132819-166132820	Weak transcription Enhancers Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs199834530	chr4:166132877-166132878	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs577592620	chr4:166132912-166132913	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs545304658	chr4:166132972-166132973	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187779677	chr4:166133031-166133032	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1808136	chr4:166133046-166133047	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2874655	chr4:166133053-166133054	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs3864139	chr4:166133067-166133068	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572270152	chr4:166133084-166133085	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376837672	chr4:166133093-166133094	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567869279	chr4:166133111-166133112	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs561328240	chr4:166133122-166133123	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147268319	chr4:166133142-166133143	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543772353	chr4:166133147-166133148	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs565114751	chr4:166133149-166133150	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs532573954	chr4:166133150-166133151	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116475291	chr4:166133176-166133177	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs547681437	chr4:166133193-166133194	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566035058	chr4:166133280-166133281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371189791	chr4:166133379-166133380	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548388967	chr4:166133403-166133404	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567323976	chr4:166133468-166133469	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs193141400	chr4:166133491-166133492	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166134600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:166129600-166137800	Weak transcription	Small Intestine	intestine
3	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
5	chr4:166129800-166132000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:166129800-166132000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:166129800-166132000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:166129800-166132200	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:166129800-166132200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:166129800-166133800	Weak transcription	Fetal Kidney	kidney
11	chr4:166129800-166142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:166130200-166132200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:166130200-166132200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:166130200-166132600	Enhancers	Primary T cells from cord blood	blood
15	chr4:166130200-166132600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:166130200-166134600	Weak transcription	A549	lung
17	chr4:166130200-166135600	Weak transcription	Osteobl	bone
18	chr4:166130200-166137600	Weak transcription	HSMMtube	muscle
19	chr4:166130200-166150800	Weak transcription	Fetal Intestine Large	intestine
20	chr4:166130400-166132200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:166130400-166132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:166130400-166133000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:166130400-166134000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:166130400-166137200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:166130400-166138000	Weak transcription	Stomach Mucosa	stomach
26	chr4:166130400-166142400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:166130400-166143400	Weak transcription	Fetal Thymus	thymus
28	chr4:166130400-166143600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:166130400-166143600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:166130400-166143600	Weak transcription	HSMM	muscle
31	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
32	chr4:166130600-166132200	Enhancers	Hela-S3	cervix
33	chr4:166130600-166132200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr4:166130600-166132400	Enhancers	HepG2	liver
35	chr4:166130600-166132600	Enhancers	Liver	Liver
36	chr4:166130600-166133000	Enhancers	HMEC	breast
37	chr4:166130600-166133400	Enhancers	NHEK	skin
38	chr4:166130600-166134200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:166130600-166135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:166130600-166136800	Weak transcription	Adipose Nuclei	Adipose
41	chr4:166130600-166137000	Weak transcription	NH-A	brain
42	chr4:166130600-166137800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:166130600-166142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:166130600-166142400	Weak transcription	Right Ventricle	heart
45	chr4:166130600-166142800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:166130600-166143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:166130600-166146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:166130600-166200800	Weak transcription	Lung	lung
49	chr4:166130800-166132400	Enhancers	Primary B cells from cord blood	blood
50	chr4:166130800-166132400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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