Variant report

Variant	nsv5115
Chromosome Location	chr5:167101911-167147020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:418)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:167126325-167126946	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:167126403-167126862	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr5:167126323-167126896	A549	lung:	n/a	n/a
4	ATF3	chr5:167126373-167126898	A549	lung:	n/a	n/a
5	BACH1	chr5:167121337-167121547	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr5:167126436-167126790	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr5:167126474-167126762	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr5:167126255-167126932	A549	lung:	n/a	n/a
9	BCL3	chr5:167126229-167127053	A549	lung:	n/a	n/a
10	BRCA1	chr5:167126419-167126913	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr5:167126107-167126973	HCT-116	colon:	n/a	n/a
12	CBX3	chr5:167105499-167105844	HCT-116	colon:	n/a	n/a
13	CBX3	chr5:167126261-167127010	HCT-116	colon:	n/a	n/a
14	CEBPB	chr5:167139629-167139749	HepG2	liver:	n/a	n/a
15	CEBPB	chr5:167126383-167126847	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr5:167126284-167126947	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr5:167126319-167126925	A549	lung:	n/a	n/a
18	CEBPB	chr5:167126113-167127010	HCT-116	colon:	n/a	n/a
19	CEBPB	chr5:167126346-167126916	A549	lung:	n/a	n/a
20	CEBPB	chr5:167126324-167126949	IMR90	lung:	n/a	n/a
21	CEBPB	chr5:167126234-167127010	A549	lung:	n/a	n/a
22	CEBPB	chr5:167126390-167126822	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr5:167126435-167126828	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr5:167128920-167129163	Hela-S3	cervix:	n/a	chr5:167129042-167129055
25	CEBPB	chr5:167126217-167127012	HCT-116	colon:	n/a	n/a
26	CHD2	chr5:167126370-167126869	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:167112840-167112990	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr5:167126500-167126650	GM12864	blood:	n/a	n/a
29	CTCF	chr5:167135580-167135730	HRE	kidney:	n/a	n/a
30	CTCF	chr5:167135600-167135750	GM12874	blood:	n/a	n/a
31	CTCF	chr5:167135540-167135690	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr5:167135540-167135690	SAEC	small airway:	n/a	n/a
33	CTCF	chr5:167126520-167126670	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr5:167124099-167124222	NHEK	skin:	n/a	n/a
35	CTCF	chr5:167135603-167135727	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:167135480-167135630	HFF	foreskin:	n/a	n/a
37	CTCF	chr5:167112055-167112074	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:167112880-167113030	HMF	breast:	n/a	n/a
39	CTCF	chr5:167135540-167135690	RPTEC	kidney:	n/a	n/a
40	CTCF	chr5:167135540-167135690	GM12864	blood:	n/a	n/a
41	CTCF	chr5:167126580-167126730	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr5:167112880-167113030	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:167115300-167115450	AG10803	skin:	n/a	n/a
44	CTCF	chr5:167135586-167135712	HepG2	liver:	n/a	n/a
45	CTCF	chr5:167112927-167112976	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:167112020-167112170	AG09309	skin:	n/a	n/a
47	CTCF	chr5:167112920-167113070	AG09309	skin:	n/a	n/a
48	CTCF	chr5:167135520-167135670	A549	lung:	n/a	n/a
49	CTCF	chr5:167135607-167135691	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:167112800-167112950	NHEK	skin:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:167126705-167126755	HIPEpiC	eye:	n/a
2	chr5:167142403-167142453	A549	lung:	n/a
3	chr5:167142403-167142453	ovcar-3	ovarian:	n/a
4	chr5:167126705-167126755	HNPCEpiC	eye:	n/a
5	chr5:167126705-167126755	H1-hESC	embryonic stem cell:	embryo
6	chr5:167142403-167142453	SAEC	small airway:	n/a
7	chr5:167126705-167126755	GM06990	blood:	n/a
8	chr5:167142403-167142453	H1-hESC	embryonic stem cell:	embryo
9	chr5:167142403-167142453	NH-A	brain:	n/a
10	chr5:167126705-167126755	HAEpiC	amniotic membrane:	n/a
11	chr5:167126705-167126755	Jurkat	blood:	n/a
12	chr5:167142403-167142453	GM12891	blood:	n/a
13	chr5:167126705-167126755	K562	blood:	n/a
14	chr5:167142403-167142453	IMR90	lung:	fetal
15	chr5:167126705-167126755	SKMC	muscle:	n/a
16	chr5:167126705-167126755	Hepatocyte	liver:	n/a
17	chr5:167142403-167142453	AG10803	skin:	n/a
18	chr5:167142403-167142453	SK-N-SH	brain:	n/a
19	chr5:167126705-167126755	SAEC	small airway:	n/a
20	chr5:167126705-167126755	U87	brain:	n/a
21	chr5:167126705-167126755	PrEC	prostate:	n/a
22	chr5:167142403-167142453	HCPEpiC	choroid plexus:	n/a
23	chr5:167142403-167142453	ProgFib	skin:	n/a
24	chr5:167142403-167142453	Hela-S3	cervix:	n/a
25	chr5:167142403-167142453	PrEC	prostate:	n/a
26	chr5:167126705-167126755	RPTEC	kidney:	n/a
27	chr5:167126705-167126755	AG04450	lung:	fetal
28	chr5:167126705-167126755	IMR90	lung:	fetal
29	chr5:167142403-167142453	Hepatocyte	liver:	n/a
30	chr5:167126705-167126755	AG09319	gingival:	n/a
31	chr5:167142403-167142453	PANC-1	pancreas:	n/a
32	chr5:167142403-167142453	BJ	skin:	n/a
33	chr5:167126705-167126755	GM19239	blood:	n/a
34	chr5:167142403-167142453	NT2-D1	testis:	n/a
35	chr5:167142403-167142453	K562	blood:	n/a
36	chr5:167126705-167126755	MCF-7	breast:	n/a
37	chr5:167126705-167126755	NH-A	brain:	n/a
38	chr5:167142403-167142453	HRE	kidney:	n/a
39	chr5:167126705-167126755	GM12892	blood:	n/a
40	chr5:167126705-167126755	HL-60	blood:	n/a
41	chr5:167126705-167126755	SK-N-MC	brain:	n/a
42	chr5:167126705-167126755	HMEC	breast:	n/a
43	chr5:167126705-167126755	SK-N-SH	brain:	n/a
44	chr5:167126705-167126755	SK-N-SH_RA	brain:	n/a
45	chr5:167126705-167126755	HRPEpiC	eye:	n/a
46	chr5:167142403-167142453	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:167126705-167126755	HEEpiC	esophagus:	n/a
48	chr5:167142403-167142453	HMEC	breast:	n/a
49	chr5:167126705-167126755	AG04449	skin:	fetal
50	chr5:167126705-167126755	CMK	blood:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167145648..167148194-chr5:167148598..167150135,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253357	TF binding region
ENSG00000253357	CpG island

Extended variants
information (count: 1670 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1670 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549713175	chr5:167101945-167101946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116657266	chr5:167101961-167101962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578187033	chr5:167101988-167101989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545619658	chr5:167102024-167102025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563943424	chr5:167102028-167102029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550687262	chr5:167102037-167102038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374968113	chr5:167102059-167102060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570607729	chr5:167102124-167102125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539237487	chr5:167102128-167102129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187192088	chr5:167102165-167102166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572970941	chr5:167102178-167102179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35198202	chr5:167102193-167102194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192655772	chr5:167102285-167102286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527462774	chr5:167102326-167102327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555243513	chr5:167102346-167102347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575195186	chr5:167102411-167102412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544237472	chr5:167102475-167102476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144893032	chr5:167102490-167102491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578069092	chr5:167102500-167102501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184450698	chr5:167102505-167102506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115331208	chr5:167102506-167102507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189534790	chr5:167102530-167102531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529484410	chr5:167102531-167102532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193029702	chr5:167102541-167102542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563215653	chr5:167102551-167102552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570728467	chr5:167102576-167102577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530515725	chr5:167102614-167102615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550626103	chr5:167102634-167102635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184945305	chr5:167102646-167102647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562993081	chr5:167102662-167102663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386694665	chr5:167102665-167102666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59834824	chr5:167102666-167102667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs34320560	chr5:167102667-167102668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566613555	chr5:167102696-167102697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188882092	chr5:167102715-167102716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371771302	chr5:167102724-167102725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535275234	chr5:167102752-167102753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540291979	chr5:167102771-167102772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555230960	chr5:167102791-167102792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376879608	chr5:167102801-167102802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138648769	chr5:167102813-167102814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141721480	chr5:167102817-167102818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs181748622	chr5:167102858-167102859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs144567100	chr5:167102865-167102866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540693170	chr5:167102888-167102889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553984798	chr5:167102924-167102925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574169710	chr5:167102942-167102943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565044802	chr5:167102945-167102946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs115760863	chr5:167102946-167102947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs6885478	chr5:167102951-167102952	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167090600-167115800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167096800-167103400	Weak transcription	Fetal Lung	lung
3	chr5:167098000-167105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:167098400-167105400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:167098600-167103400	Weak transcription	HSMM	muscle
6	chr5:167101400-167102800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:167102800-167104400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:167104200-167104800	Weak transcription	Fetal Lung	lung
9	chr5:167105400-167105600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:167105400-167105800	Enhancers	A549	lung
11	chr5:167105400-167106000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:167106000-167106400	Enhancers	Fetal Lung	lung
13	chr5:167108800-167109000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:167109000-167115800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:167109600-167109800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:167109800-167110200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:167109800-167112600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:167110200-167111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:167111000-167111400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:167111000-167111600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:167111200-167111400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:167111200-167111400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:167111200-167111400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:167111200-167111800	Enhancers	HMEC	breast
25	chr5:167111200-167112000	Enhancers	NH-A	brain
26	chr5:167111200-167112400	Enhancers	A549	lung
27	chr5:167111400-167115000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:167111400-167125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:167111600-167112000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:167111600-167112000	Enhancers	Osteobl	bone
31	chr5:167111600-167112200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr5:167112000-167112600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:167112000-167115600	Weak transcription	NH-A	brain
34	chr5:167112000-167115600	Weak transcription	Osteobl	bone
35	chr5:167112200-167114000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:167112600-167114400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:167114000-167115600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr5:167114400-167117600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:167114800-167116400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:167114800-167116400	Enhancers	HSMM	muscle
41	chr5:167115000-167115600	Enhancers	Fetal Lung	lung
42	chr5:167115000-167116400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:167115400-167116000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:167115600-167116000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:167115600-167116200	Enhancers	NH-A	brain
46	chr5:167115600-167116200	Enhancers	Osteobl	bone
47	chr5:167115800-167116200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:167115800-167116400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:167116000-167116800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr5:167116000-167117400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links