Variant report

Variant	nsv875459
Chromosome Location	chr2:179839833-179896787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:528)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:528 , 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	chr2:179885852-179886432	GM12878	blood:	n/a	n/a
2	ATF2	chr2:179896233-179897238	GM12878	blood:	n/a	n/a
3	ATF2	chr2:179896288-179897163	GM12878	blood:	n/a	n/a
4	ATF2	chr2:179885897-179886437	GM12878	blood:	n/a	n/a
5	BATF	chr2:179855315-179855664	GM12878	blood:	n/a	n/a
6	BATF	chr2:179855311-179855592	GM12878	blood:	n/a	n/a
7	BATF	chr2:179896385-179897191	GM12878	blood:	n/a	chr2:179896815-179896825 chr2:179896814-179896825
8	BATF	chr2:179885953-179886337	GM12878	blood:	n/a	n/a
9	BATF	chr2:179885882-179886408	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:179885866-179886395	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:179896464-179896913	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:179885932-179886385	GM12878	blood:	n/a	n/a
13	BCL11A	chr2:179896398-179897128	GM12878	blood:	n/a	n/a
14	BCL3	chr2:179896426-179897244	GM12878	blood:	n/a	n/a
15	BCLAF1	chr2:179885813-179886511	GM12878	blood:	n/a	n/a
16	BCLAF1	chr2:179896411-179897213	GM12878	blood:	n/a	n/a
17	BCLAF1	chr2:179885964-179886450	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:179896181-179897435	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:179885721-179886428	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:179888995-179889074	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:179896442-179896875	GM12878	blood:	n/a	n/a
22	BRCA1	chr2:179886019-179886139	GM12878	blood:	n/a	n/a
23	CEBPB	chr2:179845588-179845908	A549	lung:	n/a	n/a
24	CEBPB	chr2:179845572-179845925	IMR90	lung:	n/a	n/a
25	CEBPB	chr2:179883991-179884359	HepG2	liver:	n/a	chr2:179884163-179884174
26	CEBPB	chr2:179845472-179845929	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:179884005-179884332	A549	lung:	n/a	chr2:179884163-179884174
28	CEBPB	chr2:179884063-179884320	H1-hESC	embryonic stem cell:	n/a	chr2:179884163-179884174
29	CEBPB	chr2:179883997-179884337	IMR90	lung:	n/a	chr2:179884163-179884174
30	CEBPB	chr2:179884034-179884308	K562	blood:	n/a	chr2:179884163-179884174
31	CEBPB	chr2:179884975-179885140	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:179867933-179868107	HepG2	liver:	n/a	chr2:179868015-179868026
33	CEBPB	chr2:179845656-179845895	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr2:179885832-179886493	GM12878	blood:	n/a	n/a
35	CHD1	chr2:179884948-179885034	GM12878	blood:	n/a	n/a
36	CHD1	chr2:179888045-179888071	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr2:179889072-179889122	GM12878	blood:	n/a	n/a
38	CHD2	chr2:179885849-179886469	GM12878	blood:	n/a	n/a
39	CHD2	chr2:179884970-179885165	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr2:179855374-179855716	GM12878	blood:	n/a	n/a
41	CHD2	chr2:179896431-179897361	GM12878	blood:	n/a	n/a
42	CREB1	chr2:179896235-179897356	GM12878	blood:	n/a	n/a
43	CTCF	chr2:179857560-179857710	RPTEC	kidney:	n/a	n/a
44	CTCF	chr2:179857551-179857746	Gliobla	brain:	n/a	n/a
45	CTCF	chr2:179884948-179885219	GM19238	blood:	n/a	n/a
46	CTCF	chr2:179857228-179857933	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr2:179857540-179857690	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr2:179857540-179857690	GM12873	blood:	n/a	n/a
49	CTCF	chr2:179884980-179885130	GM12871	blood:	n/a	n/a
50	CTCF	chr2:179886026-179886194	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179847360-179847410	K562	blood:	n/a
2	chr2:179847360-179847410	Caco-2	colon:	n/a
3	chr2:179847360-179847410	LNCaP	prostate:	n/a
4	chr2:179847360-179847410	H1-hESC	embryonic stem cell:	embryo
5	chr2:179847360-179847410	SK-N-SH_RA	brain:	n/a
6	chr2:179847360-179847410	NHDF-neo	bronchial:	n/a
7	chr2:179847360-179847410	RPTEC	kidney:	n/a
8	chr2:179847360-179847410	HepG2	liver:	n/a
9	chr2:179847360-179847410	AG09309	skin:	n/a
10	chr2:179847360-179847410	SK-N-MC	brain:	n/a
11	chr2:179847360-179847410	HMEC	breast:	n/a
12	chr2:179847360-179847410	MCF-7	breast:	n/a
13	chr2:179847360-179847410	NHBE	bronchial:	n/a
14	chr2:179847360-179847410	PrEC	prostate:	n/a
15	chr2:179847360-179847410	IMR90	lung:	fetal
16	chr2:179847360-179847410	HL-60	blood:	n/a
17	chr2:179847360-179847410	CMK	blood:	n/a
18	chr2:179847360-179847410	BJ	skin:	n/a
19	chr2:179847360-179847410	ProgFib	skin:	n/a
20	chr2:179847360-179847410	HEK293	kidney:	embryo
21	chr2:179847360-179847410	Jurkat	blood:	n/a
22	chr2:179847360-179847410	A549	lung:	n/a
23	chr2:179847360-179847410	SK-N-SH	brain:	n/a
24	chr2:179847360-179847410	MCF10A-Er-Src	breast:	n/a
25	chr2:179847360-179847410	SKMC	muscle:	n/a
26	chr2:179847360-179847410	AG10803	skin:	n/a
27	chr2:179847360-179847410	GM12891	blood:	n/a
28	chr2:179847360-179847410	PFSK-1	brain:	n/a
29	chr2:179847360-179847410	GM19239	blood:	n/a
30	chr2:179847360-179847410	BE2_C	brain:	n/a
31	chr2:179847360-179847410	AG04449	skin:	fetal
32	chr2:179847360-179847410	HCM	heart:	n/a
33	chr2:179847360-179847410	HAEpiC	amniotic membrane:	n/a
34	chr2:179847360-179847410	NB4	blood:	n/a
35	chr2:179847360-179847410	ECC-1	luminal epithelium:	n/a
36	chr2:179847360-179847410	ovcar-3	ovarian:	n/a
37	chr2:179847360-179847410	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:179847360-179847410	SAEC	small airway:	n/a
39	chr2:179847360-179847410	U87	brain:	n/a
40	chr2:179847360-179847410	GM12878	blood:	n/a
41	chr2:179847360-179847410	HCPEpiC	choroid plexus:	n/a
42	chr2:179847360-179847410	PANC-1	pancreas:	n/a
43	chr2:179847360-179847410	NH-A	brain:	n/a
44	chr2:179847360-179847410	AoSMC	blood vessel:	n/a
45	chr2:179847360-179847410	GM12892	blood:	n/a
46	chr2:179847360-179847410	Hepatocyte	liver:	n/a
47	chr2:179847360-179847410	HNPCEpiC	eye:	n/a
48	chr2:179847360-179847410	Hela-S3	cervix:	n/a
49	chr2:179847360-179847410	AG09319	gingival:	n/a
50	chr2:179847360-179847410	HEEpiC	esophagus:	n/a

(count:5 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 2382 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2382 , 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	rs10930846	chr2:179839833-179839834	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376695532	chr2:179839857-179839858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558662861	chr2:179839885-179839886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10497529	chr2:179839888-179839889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544208039	chr2:179839890-179839891	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560691142	chr2:179839896-179839897	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113008315	chr2:179839944-179839945	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34660883	chr2:179839948-179839949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75704987	chr2:179839962-179839963	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559964158	chr2:179839993-179839994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140828210	chr2:179840010-179840011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545928498	chr2:179840096-179840097	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150128278	chr2:179840112-179840113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138734894	chr2:179840132-179840133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548567427	chr2:179840136-179840137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16866583	chr2:179840141-179840142	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189360079	chr2:179840160-179840161	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553396644	chr2:179840240-179840241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181650497	chr2:179840317-179840318	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548104842	chr2:179840323-179840324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571082845	chr2:179840363-179840364	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540020358	chr2:179840366-179840367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34221259	chr2:179840390-179840391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556443397	chr2:179840397-179840398	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568952172	chr2:179840465-179840466	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142734131	chr2:179840505-179840506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372839947	chr2:179840528-179840529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554593331	chr2:179840530-179840531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574350167	chr2:179840639-179840640	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185937138	chr2:179840653-179840654	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553636790	chr2:179840673-179840674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541284000	chr2:179840674-179840675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545617015	chr2:179840753-179840754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562498393	chr2:179840755-179840756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573260446	chr2:179840799-179840800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541948632	chr2:179840840-179840841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562159494	chr2:179840850-179840851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11675573	chr2:179840918-179840919	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35233376	chr2:179840924-179840925	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571174519	chr2:179840951-179840952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35667841	chr2:179841008-179841009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74945440	chr2:179841032-179841033	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575608130	chr2:179841113-179841114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115094392	chr2:179841152-179841153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550349690	chr2:179841176-179841177	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570106868	chr2:179841179-179841180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537994988	chr2:179841185-179841186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35262962	chr2:179841199-179841200	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35742350	chr2:179841208-179841209	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554348925	chr2:179841235-179841236	Strong transcription Weak transcription Enhancers	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:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:179806800-179843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:179816600-179841200	Weak transcription	Right Ventricle	heart
4	chr2:179828200-179845200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:179829600-179861800	Weak transcription	Fetal Heart	heart
6	chr2:179831200-179875600	Weak transcription	Left Ventricle	heart
7	chr2:179836200-179845600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:179836600-179846200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:179837800-179844400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:179839200-179843000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:179840400-179843200	Weak transcription	Pancreas	Pancrea
12	chr2:179841200-179841400	Enhancers	Right Ventricle	heart
13	chr2:179841400-179841600	Weak transcription	Right Ventricle	heart
14	chr2:179843000-179846000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179843200-179843400	Enhancers	Pancreas	Pancrea
16	chr2:179846200-179847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179847000-179847200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:179847200-179847600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:179847200-179853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:179853200-179855400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:179855000-179855600	Active TSS	GM12878-XiMat	blood
22	chr2:179855200-179855400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:179855400-179855800	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:179855400-179855800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr2:179855400-179856000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:179855400-179856000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:179855400-179857200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:179855600-179856000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:179855600-179856200	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:179855600-179859000	Weak transcription	Thymus	Thymus
31	chr2:179855800-179856000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:179856000-179863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:179856000-179863600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:179857200-179862800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:179858600-179859000	Enhancers	Liver	Liver
36	chr2:179858600-179859000	Weak transcription	HSMMtube	muscle
37	chr2:179858600-179859400	ZNF genes & repeats	Pancreas	Pancrea
38	chr2:179859000-179859200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:179859000-179859200	ZNF genes & repeats	Thymus	Thymus
40	chr2:179859000-179859200	ZNF genes & repeats	HSMMtube	muscle
41	chr2:179859200-179859400	Weak transcription	Thymus	Thymus
42	chr2:179859200-179863200	Weak transcription	Primary T cells from cord blood	blood
43	chr2:179859200-179863600	Weak transcription	HSMMtube	muscle
44	chr2:179860400-179864000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:179861000-179863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:179861400-179862200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr2:179861800-179862600	Enhancers	Fetal Heart	heart
48	chr2:179862200-179863200	Enhancers	GM12878-XiMat	blood
49	chr2:179862200-179864200	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:179862600-179863000	Weak transcription	Fetal Heart	heart

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