Variant report

Variant	nsv881299
Chromosome Location	chr4:175403673-175415442
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	ARID3A	chr4:175411653-175411939	K562	blood:	n/a	n/a
2	BCL3	chr4:175411270-175412225	A549	lung:	n/a	n/a
3	CCNT2	chr4:175404812-175405019	K562	blood:	n/a	n/a
4	CEBPB	chr4:175412486-175412752	A549	lung:	n/a	n/a
5	CEBPB	chr4:175411381-175412256	A549	lung:	n/a	n/a
6	CEBPB	chr4:175411733-175412122	A549	lung:	n/a	n/a
7	CEBPB	chr4:175411820-175412154	A549	lung:	n/a	n/a
8	CEBPB	chr4:175411498-175412164	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr4:175404414-175404493	GM10266	blood:	n/a	n/a
10	CTCF	chr4:175408320-175408470	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr4:175404407-175404448	GM13976	blood:	n/a	n/a
12	CUX1	chr4:175411646-175411996	K562	blood:	n/a	n/a
13	E2F4	chr4:175407664-175407808	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr4:175411566-175412087	K562	blood:	n/a	n/a
15	EP300	chr4:175411281-175412318	A549	lung:	n/a	n/a
16	EP300	chr4:175411321-175412243	A549	lung:	n/a	n/a
17	EP300	chr4:175411516-175412155	Hela-S3	cervix:	n/a	n/a
18	FOS	chr4:175411506-175412099	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr4:175411537-175412061	Hela-S3	cervix:	n/a	n/a
20	FOS	chr4:175411615-175412099	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:175411499-175412091	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:175411640-175412099	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr4:175411312-175412512	A549	lung:	n/a	n/a
24	FOSL2	chr4:175411475-175412137	A549	lung:	n/a	n/a
25	FOXA2	chr4:175411308-175411995	A549	lung:	n/a	n/a
26	GATA3	chr4:175411604-175411995	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr4:175411221-175412342	A549	lung:	n/a	n/a
28	JUN	chr4:175411506-175411996	K562	blood:	n/a	n/a
29	JUN	chr4:175411401-175412119	Hela-S3	cervix:	n/a	n/a
30	JUND	chr4:175411599-175412263	SK-N-SH	brain:	n/a	n/a
31	JUND	chr4:175411484-175412190	Hela-S3	cervix:	n/a	n/a
32	JUND	chr4:175411532-175412103	K562	blood:	n/a	n/a
33	JUND	chr4:175411519-175412210	A549	lung:	n/a	n/a
34	MAFF	chr4:175409585-175409792	K562	blood:	n/a	chr4:175409704-175409722
35	MAFF	chr4:175409551-175409844	HepG2	liver:	n/a	chr4:175409704-175409722
36	MAFK	chr4:175409547-175409814	HepG2	liver:	n/a	chr4:175409706-175409721 chr4:175409706-175409717 chr4:175409706-175409717 chr4:175409707-175409718 chr4:175409706-175409722
37	MAFK	chr4:175410477-175410592	HepG2	liver:	n/a	n/a
38	MAFK	chr4:175409584-175409800	HepG2	liver:	n/a	chr4:175409706-175409721 chr4:175409706-175409717 chr4:175409706-175409717 chr4:175409707-175409718 chr4:175409706-175409722
39	MAFK	chr4:175409681-175409764	K562	blood:	n/a	chr4:175409706-175409721 chr4:175409706-175409717 chr4:175409706-175409717 chr4:175409707-175409718 chr4:175409706-175409722
40	MAFK	chr4:175409550-175409831	IMR90	lung:	n/a	chr4:175409706-175409721 chr4:175409706-175409717 chr4:175409706-175409717 chr4:175409707-175409718 chr4:175409706-175409722
41	MAX	chr4:175406372-175406459	HepG2	liver:	n/a	n/a
42	MAX	chr4:175411530-175412164	A549	lung:	n/a	n/a
43	MAX	chr4:175411371-175412198	A549	lung:	n/a	n/a
44	MYC	chr4:175411810-175411986	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr4:175404338-175404372	K562	blood:	n/a	n/a
46	POLR2A	chr4:175410669-175410686	MCF-7	breast:	n/a	n/a
47	POLR2A	chr4:175410201-175410374	K562	blood:	n/a	n/a
48	POLR2A	chr4:175410647-175410759	Gliobla	brain:	n/a	n/a
49	POLR2A	chr4:175407308-175407393	Gliobla	brain:	n/a	n/a
50	POLR2A	chr4:175407350-175407376	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:175406770..175409380-chr4:175409383..175411146,2	K562	blood:
2	chr4:175406770..175409380-chr4:175409383..175411146,2	K562	blood:
3	chr4:175410591..175412440-chr4:175417791..175419375,2	K562	blood:

Variant related genes	Relation type
HPGD	TF binding region

Extended variants
information (count: 484 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4613543	chr4:175403673-175403674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142351309	chr4:175403686-175403687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543640916	chr4:175403724-175403725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369516864	chr4:175403772-175403773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7682749	chr4:175403778-175403779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188031587	chr4:175403783-175403784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7682898	chr4:175403804-175403805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2255737	chr4:175403808-175403809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570997922	chr4:175403840-175403841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539931582	chr4:175403854-175403855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553262857	chr4:175403869-175403870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201811287	chr4:175403940-175403941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35780342	chr4:175403953-175403954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs62337155	chr4:175404144-175404145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116487003	chr4:175404178-175404179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574892731	chr4:175404205-175404206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111398563	chr4:175404246-175404247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376858898	chr4:175404272-175404273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543846261	chr4:175404276-175404277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563750624	chr4:175404290-175404291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115451512	chr4:175404303-175404304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559746764	chr4:175404304-175404305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542285832	chr4:175404334-175404335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193270391	chr4:175404340-175404341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114279279	chr4:175404350-175404351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114935581	chr4:175404355-175404356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13138556	chr4:175404371-175404372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200482026	chr4:175404410-175404411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13138739	chr4:175404414-175404415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527601935	chr4:175404439-175404440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569220616	chr4:175404448-175404449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530917808	chr4:175404461-175404462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550953827	chr4:175404485-175404486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570881343	chr4:175404524-175404525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539515204	chr4:175404550-175404551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553467904	chr4:175404586-175404587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112137870	chr4:175404611-175404612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536095059	chr4:175404613-175404614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544994440	chr4:175404658-175404659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141740290	chr4:175404711-175404712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183744348	chr4:175404724-175404725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74328070	chr4:175404750-175404751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150468298	chr4:175404761-175404762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541362995	chr4:175404830-175404831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188692658	chr4:175404893-175404894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571231101	chr4:175404937-175404938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79208177	chr4:175404945-175404946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560220307	chr4:175404969-175404970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573750723	chr4:175404972-175404973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542882496	chr4:175404996-175404997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175396000-175442800	Weak transcription	Esophagus	oesophagus
2	chr4:175404400-175405000	Enhancers	Duodenum Mucosa	Duodenum
3	chr4:175405000-175406000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:175406000-175406800	Enhancers	Liver	Liver
5	chr4:175406000-175406800	Enhancers	Duodenum Mucosa	Duodenum
6	chr4:175406000-175406800	Enhancers	Fetal Intestine Large	intestine
7	chr4:175406200-175406800	Enhancers	Fetal Intestine Small	intestine
8	chr4:175406800-175412800	Weak transcription	Liver	Liver
9	chr4:175406800-175412800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:175406800-175415200	Weak transcription	Fetal Intestine Large	intestine
11	chr4:175406800-175415800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:175407000-175410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:175407000-175415000	Weak transcription	Primary T cells from cord blood	blood
14	chr4:175408200-175408600	Enhancers	A549	lung
15	chr4:175408200-175411600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:175408600-175410200	Weak transcription	A549	lung
17	chr4:175409200-175415000	Weak transcription	Fetal Thymus	thymus
18	chr4:175409400-175424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:175410000-175424600	Weak transcription	Fetal Stomach	stomach
20	chr4:175410000-175440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:175410200-175410400	Enhancers	A549	lung
22	chr4:175410400-175411200	Genic enhancers	A549	lung
23	chr4:175410400-175412600	Enhancers	Hela-S3	cervix
24	chr4:175410400-175418000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:175410600-175410800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:175410600-175410800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:175410600-175410800	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr4:175410600-175410800	Enhancers	Placenta	Placenta
29	chr4:175410600-175410800	ZNF genes & repeats	Gastric	stomach
30	chr4:175410600-175410800	ZNF genes & repeats	Lung	lung
31	chr4:175410600-175411000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:175410800-175412600	Weak transcription	Placenta	Placenta
33	chr4:175410800-175417400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:175410800-175420800	Weak transcription	Lung	lung
35	chr4:175410800-175425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:175410800-175430800	Weak transcription	Gastric	stomach
37	chr4:175410800-175440000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:175411000-175418200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:175411200-175411400	Flanking Active TSS	A549	lung
40	chr4:175411200-175412400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:175411400-175412000	Active TSS	A549	lung
42	chr4:175411400-175412000	Enhancers	NHDF-Ad	bronchial
43	chr4:175411400-175412600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:175411600-175412000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr4:175411600-175412000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:175411600-175412000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:175411600-175412000	Enhancers	NH-A	brain
48	chr4:175411600-175412400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:175411600-175412600	Enhancers	Stomach Mucosa	stomach
50	chr4:175411600-175416600	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links