Variant report

Variant	nsv875462
Chromosome Location	chr2:179843612-179901443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:537)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:179896288-179897163	GM12878	blood:	n/a	n/a
2	ATF2	chr2:179885897-179886437	GM12878	blood:	n/a	n/a
3	ATF2	chr2:179885852-179886432	GM12878	blood:	n/a	n/a
4	ATF2	chr2:179896233-179897238	GM12878	blood:	n/a	n/a
5	BATF	chr2:179885882-179886408	GM12878	blood:	n/a	n/a
6	BATF	chr2:179896385-179897191	GM12878	blood:	n/a	chr2:179896815-179896825 chr2:179896814-179896825
7	BATF	chr2:179855315-179855664	GM12878	blood:	n/a	n/a
8	BATF	chr2:179855311-179855592	GM12878	blood:	n/a	n/a
9	BATF	chr2:179885953-179886337	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:179885866-179886395	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:179896398-179897128	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:179896464-179896913	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:179885932-179886385	GM12878	blood:	n/a	n/a
14	BCL3	chr2:179896426-179897244	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:179896411-179897213	GM12878	blood:	n/a	n/a
16	BCLAF1	chr2:179896181-179897435	GM12878	blood:	n/a	n/a
17	BCLAF1	chr2:179885964-179886450	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:179885813-179886511	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:179897415-179897506	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:179896442-179896875	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:179888995-179889074	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:179885721-179886428	GM12878	blood:	n/a	n/a
23	BRCA1	chr2:179886019-179886139	GM12878	blood:	n/a	n/a
24	CEBPB	chr2:179884034-179884308	K562	blood:	n/a	chr2:179884163-179884174
25	CEBPB	chr2:179845472-179845929	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:179884975-179885140	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr2:179884063-179884320	H1-hESC	embryonic stem cell:	n/a	chr2:179884163-179884174
28	CEBPB	chr2:179884005-179884332	A549	lung:	n/a	chr2:179884163-179884174
29	CEBPB	chr2:179845656-179845895	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr2:179867933-179868107	HepG2	liver:	n/a	chr2:179868015-179868026
31	CEBPB	chr2:179845572-179845925	IMR90	lung:	n/a	n/a
32	CEBPB	chr2:179883997-179884337	IMR90	lung:	n/a	chr2:179884163-179884174
33	CEBPB	chr2:179883991-179884359	HepG2	liver:	n/a	chr2:179884163-179884174
34	CEBPB	chr2:179845588-179845908	A549	lung:	n/a	n/a
35	CHD1	chr2:179889072-179889122	GM12878	blood:	n/a	n/a
36	CHD1	chr2:179897398-179897468	GM12878	blood:	n/a	n/a
37	CHD1	chr2:179884948-179885034	GM12878	blood:	n/a	n/a
38	CHD1	chr2:179885832-179886493	GM12878	blood:	n/a	n/a
39	CHD1	chr2:179888045-179888071	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr2:179896431-179897361	GM12878	blood:	n/a	n/a
41	CHD2	chr2:179855374-179855716	GM12878	blood:	n/a	n/a
42	CHD2	chr2:179885849-179886469	GM12878	blood:	n/a	n/a
43	CHD2	chr2:179884970-179885165	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr2:179896235-179897356	GM12878	blood:	n/a	n/a
45	CTCF	chr2:179884960-179885110	AG09319	gingival:	n/a	n/a
46	CTCF	chr2:179857597-179857698	GM19240	blood:	n/a	n/a
47	CTCF	chr2:179884980-179885130	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr2:179885000-179885150	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr2:179857598-179857706	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:179884980-179885130	AG04449	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179897289-179897339	HCT-116	colon:	n/a
2	chr2:179847360-179847410	K562	blood:	n/a
3	chr2:179847360-179847410	SKMC	muscle:	n/a
4	chr2:179847360-179847410	HRPEpiC	eye:	n/a
5	chr2:179847360-179847410	HCM	heart:	n/a
6	chr2:179847360-179847410	Jurkat	blood:	n/a
7	chr2:179897289-179897339	IMR90	lung:	fetal
8	chr2:179897289-179897339	MCF-7	breast:	n/a
9	chr2:179847360-179847410	H1-hESC	embryonic stem cell:	embryo
10	chr2:179847360-179847410	NHDF-neo	bronchial:	n/a
11	chr2:179897289-179897339	SAEC	small airway:	n/a
12	chr2:179897289-179897339	BJ	skin:	n/a
13	chr2:179847360-179847410	LNCaP	prostate:	n/a
14	chr2:179847360-179847410	NT2-D1	testis:	n/a
15	chr2:179897289-179897339	K562	blood:	n/a
16	chr2:179847360-179847410	U87	brain:	n/a
17	chr2:179847360-179847410	HUVEC	blood vessel:	n/a
18	chr2:179897289-179897339	HRPEpiC	eye:	n/a
19	chr2:179897289-179897339	ProgFib	skin:	n/a
20	chr2:179847360-179847410	NH-A	brain:	n/a
21	chr2:179847360-179847410	BE2_C	brain:	n/a
22	chr2:179897289-179897339	HepG2	liver:	n/a
23	chr2:179847360-179847410	AG10803	skin:	n/a
24	chr2:179847360-179847410	MCF-7	breast:	n/a
25	chr2:179897289-179897339	AG04449	skin:	fetal
26	chr2:179847360-179847410	HNPCEpiC	eye:	n/a
27	chr2:179847360-179847410	PFSK-1	brain:	n/a
28	chr2:179897289-179897339	SK-N-SH	brain:	n/a
29	chr2:179847360-179847410	HCF	heart:	n/a
30	chr2:179847360-179847410	NHBE	bronchial:	n/a
31	chr2:179847360-179847410	IMR90	lung:	fetal
32	chr2:179897289-179897339	HCPEpiC	choroid plexus:	n/a
33	chr2:179847360-179847410	RPTEC	kidney:	n/a
34	chr2:179847360-179847410	NB4	blood:	n/a
35	chr2:179897289-179897339	A549	lung:	n/a
36	chr2:179897289-179897339	PrEC	prostate:	n/a
37	chr2:179897289-179897339	HIPEpiC	eye:	n/a
38	chr2:179847360-179847410	SAEC	small airway:	n/a
39	chr2:179897289-179897339	AG10803	skin:	n/a
40	chr2:179897289-179897339	SK-N-MC	brain:	n/a
41	chr2:179897289-179897339	ovcar-3	ovarian:	n/a
42	chr2:179897289-179897339	Hela-S3	cervix:	n/a
43	chr2:179847360-179847410	AoSMC	blood vessel:	n/a
44	chr2:179847360-179847410	AG04449	skin:	fetal
45	chr2:179847360-179847410	HAEpiC	amniotic membrane:	n/a
46	chr2:179847360-179847410	GM12891	blood:	n/a
47	chr2:179847360-179847410	ProgFib	skin:	n/a
48	chr2:179897289-179897339	U87	brain:	n/a
49	chr2:179897289-179897339	SK-N-SH_RA	brain:	n/a
50	chr2:179897289-179897339	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:179882961..179884886-chr2:179892703..179894826,2	K562	blood:
2	chr2:179882961..179884886-chr2:179892703..179894826,2	K562	blood:
3	chr2:179664498..179665287-chr2:179884587..179885536,2	MCF-7	breast:
4	chr2:179839245..179841547-chr2:179841885..179844119,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHA3-17	chr2:179866483-179866548	NONHSAT075822
2	lnc-PLEKHA3-17	chr2:179866849-179867487	NONHSAT075822

No data

Variant related genes	Relation type
RPS6P2	TF binding region
ENSG00000252000	TF binding region
RPS6P2	CpG island
ENSG00000252000	CpG island

Extended variants
information (count: 2392 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2392 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1847420	chr2:179843612-179843613	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537512824	chr2:179843643-179843644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370324592	chr2:179843683-179843684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187536836	chr2:179843684-179843685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575546884	chr2:179843699-179843700	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573976043	chr2:179843703-179843704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542941931	chr2:179843710-179843711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538057274	chr2:179843765-179843766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59259347	chr2:179843801-179843802	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561491809	chr2:179843829-179843830	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573165481	chr2:179843833-179843834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545218006	chr2:179843838-179843839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565427837	chr2:179843839-179843840	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75819834	chr2:179843841-179843842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532894045	chr2:179843903-179843904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543491942	chr2:179843926-179843927	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192890186	chr2:179843929-179843930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185027283	chr2:179843941-179843942	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146111250	chr2:179843951-179843952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548968158	chr2:179843968-179843969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57975992	chr2:179843971-179843972	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528350066	chr2:179844009-179844010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189491729	chr2:179844014-179844015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540183195	chr2:179844072-179844073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551611817	chr2:179844093-179844094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571412683	chr2:179844096-179844097	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75157077	chr2:179844108-179844109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557405596	chr2:179844138-179844139	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567587900	chr2:179844202-179844203	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35595385	chr2:179844233-179844234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372101126	chr2:179844248-179844249	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542347066	chr2:179844264-179844265	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559931741	chr2:179844288-179844289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573202617	chr2:179844317-179844318	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143674882	chr2:179844379-179844380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558924940	chr2:179844382-179844383	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575787800	chr2:179844390-179844391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146313832	chr2:179844416-179844417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192761170	chr2:179844421-179844422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139250369	chr2:179844465-179844466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12468290	chr2:179844471-179844472	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113496986	chr2:179844473-179844474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528437006	chr2:179844500-179844501	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183667122	chr2:179844507-179844508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377415687	chr2:179844509-179844510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189508036	chr2:179844514-179844515	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530716158	chr2:179844552-179844553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181775764	chr2:179844561-179844562	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186426330	chr2:179844568-179844569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190395486	chr2:179844577-179844578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:179828200-179845200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:179829600-179861800	Weak transcription	Fetal Heart	heart
4	chr2:179831200-179875600	Weak transcription	Left Ventricle	heart
5	chr2:179836200-179845600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:179836600-179846200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179837800-179844400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:179843000-179846000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:179846200-179847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:179847000-179847200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:179847200-179847600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr2:179847200-179853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179853200-179855400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:179855000-179855600	Active TSS	GM12878-XiMat	blood
15	chr2:179855200-179855400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:179855400-179855800	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:179855400-179855800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:179855400-179856000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:179855400-179856000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:179855400-179857200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:179855600-179856000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:179855600-179856200	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:179855600-179859000	Weak transcription	Thymus	Thymus
24	chr2:179855800-179856000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:179856000-179863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr2:179856000-179863600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:179857200-179862800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:179858600-179859000	Enhancers	Liver	Liver
29	chr2:179858600-179859000	Weak transcription	HSMMtube	muscle
30	chr2:179858600-179859400	ZNF genes & repeats	Pancreas	Pancrea
31	chr2:179859000-179859200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:179859000-179859200	ZNF genes & repeats	Thymus	Thymus
33	chr2:179859000-179859200	ZNF genes & repeats	HSMMtube	muscle
34	chr2:179859200-179859400	Weak transcription	Thymus	Thymus
35	chr2:179859200-179863200	Weak transcription	Primary T cells from cord blood	blood
36	chr2:179859200-179863600	Weak transcription	HSMMtube	muscle
37	chr2:179860400-179864000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:179861000-179863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:179861400-179862200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr2:179861800-179862600	Enhancers	Fetal Heart	heart
41	chr2:179862200-179863200	Enhancers	GM12878-XiMat	blood
42	chr2:179862200-179864200	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:179862600-179863000	Weak transcription	Fetal Heart	heart
44	chr2:179862800-179863800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:179862800-179864000	Enhancers	Primary B cells from cord blood	blood
46	chr2:179863000-179863200	Enhancers	Fetal Heart	heart
47	chr2:179863200-179863400	Flanking Active TSS	GM12878-XiMat	blood
48	chr2:179863200-179864000	Enhancers	Primary T cells from cord blood	blood
49	chr2:179863200-179864200	Weak transcription	Fetal Heart	heart
50	chr2:179863400-179863600	Enhancers	GM12878-XiMat	blood

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