Variant report

Variant	nsv875466
Chromosome Location	chr2:179856777-179909467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:551)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr2:179896233-179897238	GM12878	blood:	n/a	n/a
4	ATF2	chr2:179885852-179886432	GM12878	blood:	n/a	n/a
5	BATF	chr2:179896385-179897191	GM12878	blood:	n/a	chr2:179896815-179896825 chr2:179896814-179896825
6	BATF	chr2:179902540-179902916	GM12878	blood:	n/a	n/a
7	BATF	chr2:179885953-179886337	GM12878	blood:	n/a	n/a
8	BATF	chr2:179885882-179886408	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:179896464-179896913	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:179896398-179897128	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:179885932-179886385	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:179885866-179886395	GM12878	blood:	n/a	n/a
13	BCL3	chr2:179896426-179897244	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:179885964-179886450	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	chr2:179885813-179886511	GM12878	blood:	n/a	n/a
18	BHLHE40	chr2:179909245-179909255	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:179897415-179897506	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:179902783-179902887	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:179888995-179889074	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:179896442-179896875	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:179885721-179886428	GM12878	blood:	n/a	n/a
24	BRCA1	chr2:179886019-179886139	GM12878	blood:	n/a	n/a
25	CEBPB	chr2:179884034-179884308	K562	blood:	n/a	chr2:179884163-179884174
26	CEBPB	chr2:179884975-179885140	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr2:179884005-179884332	A549	lung:	n/a	chr2:179884163-179884174
28	CEBPB	chr2:179883991-179884359	HepG2	liver:	n/a	chr2:179884163-179884174
29	CEBPB	chr2:179883997-179884337	IMR90	lung:	n/a	chr2:179884163-179884174
30	CEBPB	chr2:179884063-179884320	H1-hESC	embryonic stem cell:	n/a	chr2:179884163-179884174
31	CEBPB	chr2:179867933-179868107	HepG2	liver:	n/a	chr2:179868015-179868026
32	CEBPB	chr2:179903067-179903239	IMR90	lung:	n/a	n/a
33	CHD1	chr2:179897398-179897468	GM12878	blood:	n/a	n/a
34	CHD1	chr2:179884948-179885034	GM12878	blood:	n/a	n/a
35	CHD1	chr2:179888045-179888071	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr2:179885832-179886493	GM12878	blood:	n/a	n/a
37	CHD1	chr2:179889072-179889122	GM12878	blood:	n/a	n/a
38	CHD2	chr2:179896431-179897361	GM12878	blood:	n/a	n/a
39	CHD2	chr2:179909327-179909557	GM12878	blood:	n/a	n/a
40	CHD2	chr2:179885849-179886469	GM12878	blood:	n/a	n/a
41	CHD2	chr2:179884970-179885165	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr2:179896235-179897356	GM12878	blood:	n/a	n/a
43	CTCF	chr2:179857480-179857630	HCT-116	colon:	n/a	n/a
44	CTCF	chr2:179884980-179885130	AG04449	skin:	n/a	n/a
45	CTCF	chr2:179857500-179857650	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr2:179884780-179884930	HCM	heart:	n/a	n/a
47	CTCF	chr2:179885040-179885190	HL-60	blood:	n/a	n/a
48	CTCF	chr2:179857540-179857690	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr2:179885000-179885150	HepG2	liver:	n/a	n/a
50	CTCF	chr2:179857520-179857670	RPTEC	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179897289-179897339	CMK	blood:	n/a
2	chr2:179897289-179897339	SAEC	small airway:	n/a
3	chr2:179897289-179897339	Caco-2	colon:	n/a
4	chr2:179897289-179897339	SKMC	muscle:	n/a
5	chr2:179897289-179897339	MCF-7	breast:	n/a
6	chr2:179897289-179897339	AG04449	skin:	fetal
7	chr2:179897289-179897339	GM19239	blood:	n/a
8	chr2:179897289-179897339	Hepatocyte	liver:	n/a
9	chr2:179897289-179897339	BJ	skin:	n/a
10	chr2:179897289-179897339	H1-hESC	embryonic stem cell:	embryo
11	chr2:179897289-179897339	AG09309	skin:	n/a
12	chr2:179897289-179897339	ovcar-3	ovarian:	n/a
13	chr2:179897289-179897339	SK-N-MC	brain:	n/a
14	chr2:179897289-179897339	HepG2	liver:	n/a
15	chr2:179897289-179897339	HAEpiC	amniotic membrane:	n/a
16	chr2:179897289-179897339	ProgFib	skin:	n/a
17	chr2:179897289-179897339	BE2_C	brain:	n/a
18	chr2:179897289-179897339	SK-N-SH_RA	brain:	n/a
19	chr2:179897289-179897339	GM12892	blood:	n/a
20	chr2:179897289-179897339	HEK293	kidney:	embryo
21	chr2:179897289-179897339	NHDF-neo	bronchial:	n/a
22	chr2:179897289-179897339	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:179897289-179897339	ECC-1	luminal epithelium:	n/a
24	chr2:179897289-179897339	HUVEC	blood vessel:	n/a
25	chr2:179897289-179897339	A549	lung:	n/a
26	chr2:179897289-179897339	HMEC	breast:	n/a
27	chr2:179897289-179897339	LNCaP	prostate:	n/a
28	chr2:179897289-179897339	HL-60	blood:	n/a
29	chr2:179897289-179897339	HIPEpiC	eye:	n/a
30	chr2:179897289-179897339	MCF10A-Er-Src	breast:	n/a
31	chr2:179897289-179897339	HRPEpiC	eye:	n/a
32	chr2:179897289-179897339	HCPEpiC	choroid plexus:	n/a
33	chr2:179897289-179897339	SK-N-SH	brain:	n/a
34	chr2:179897289-179897339	HNPCEpiC	eye:	n/a
35	chr2:179897289-179897339	AG09319	gingival:	n/a
36	chr2:179897289-179897339	HRE	kidney:	n/a
37	chr2:179897289-179897339	NH-A	brain:	n/a
38	chr2:179897289-179897339	AG10803	skin:	n/a
39	chr2:179897289-179897339	HCT-116	colon:	n/a
40	chr2:179897289-179897339	PANC-1	pancreas:	n/a
41	chr2:179897289-179897339	K562	blood:	n/a
42	chr2:179897289-179897339	NB4	blood:	n/a
43	chr2:179897289-179897339	PrEC	prostate:	n/a
44	chr2:179897289-179897339	HCM	heart:	n/a
45	chr2:179897289-179897339	RPTEC	kidney:	n/a
46	chr2:179897289-179897339	NHBE	bronchial:	n/a
47	chr2:179897289-179897339	GM06990	blood:	n/a
48	chr2:179897289-179897339	AoSMC	blood vessel:	n/a
49	chr2:179897289-179897339	T-47D	breast:	n/a
50	chr2:179897289-179897339	GM12878	blood:	n/a

(count:3 , 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:

(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: 2111 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2111 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1032833	chr2:179856777-179856778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182711427	chr2:179856797-179856798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34433848	chr2:179856819-179856820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs75159259	chr2:179856832-179856833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370617887	chr2:179856859-179856860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143707662	chr2:179856876-179856877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34013863	chr2:179856887-179856888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs565042992	chr2:179856960-179856961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531086434	chr2:179857009-179857010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571003203	chr2:179857042-179857043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540707304	chr2:179857068-179857069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398060830	chr2:179857084-179857085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs63596263	chr2:179857085-179857086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62179085	chr2:179857088-179857089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534401375	chr2:179857106-179857107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140776901	chr2:179857107-179857108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530875204	chr2:179857112-179857113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550599867	chr2:179857160-179857161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187830236	chr2:179857162-179857163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530449078	chr2:179857178-179857179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144072969	chr2:179857196-179857197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568180491	chr2:179857223-179857224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76422620	chr2:179857244-179857245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192346579	chr2:179857284-179857285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182899074	chr2:179857318-179857319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372544382	chr2:179857338-179857339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571406989	chr2:179857344-179857345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148662275	chr2:179857383-179857384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72963214	chr2:179857422-179857423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187530619	chr2:179857430-179857431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192060737	chr2:179857442-179857443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142138855	chr2:179857456-179857457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573048812	chr2:179857460-179857461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549299943	chr2:179857495-179857496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373389512	chr2:179857498-179857499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544815123	chr2:179857547-179857548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375258392	chr2:179857548-179857549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184909342	chr2:179857626-179857627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189752898	chr2:179857628-179857629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192404693	chr2:179857650-179857651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544276661	chr2:179857655-179857656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561366993	chr2:179857659-179857660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184304798	chr2:179857672-179857673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371708951	chr2:179857681-179857682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546942926	chr2:179857682-179857683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189492856	chr2:179857708-179857709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532813137	chr2:179857734-179857735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181763722	chr2:179857768-179857769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186424478	chr2:179857769-179857770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537179352	chr2:179857776-179857777	ZNF genes & repeats 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:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179829600-179861800	Weak transcription	Fetal Heart	heart
2	chr2:179831200-179875600	Weak transcription	Left Ventricle	heart
3	chr2:179855400-179857200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179855600-179859000	Weak transcription	Thymus	Thymus
5	chr2:179856000-179863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:179856000-179863600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:179857200-179862800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:179858600-179859000	Enhancers	Liver	Liver
9	chr2:179858600-179859000	Weak transcription	HSMMtube	muscle
10	chr2:179858600-179859400	ZNF genes & repeats	Pancreas	Pancrea
11	chr2:179859000-179859200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:179859000-179859200	ZNF genes & repeats	Thymus	Thymus
13	chr2:179859000-179859200	ZNF genes & repeats	HSMMtube	muscle
14	chr2:179859200-179859400	Weak transcription	Thymus	Thymus
15	chr2:179859200-179863200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:179859200-179863600	Weak transcription	HSMMtube	muscle
17	chr2:179860400-179864000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:179861000-179863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:179861400-179862200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr2:179861800-179862600	Enhancers	Fetal Heart	heart
21	chr2:179862200-179863200	Enhancers	GM12878-XiMat	blood
22	chr2:179862200-179864200	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:179862600-179863000	Weak transcription	Fetal Heart	heart
24	chr2:179862800-179863800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:179862800-179864000	Enhancers	Primary B cells from cord blood	blood
26	chr2:179863000-179863200	Enhancers	Fetal Heart	heart
27	chr2:179863200-179863400	Flanking Active TSS	GM12878-XiMat	blood
28	chr2:179863200-179864000	Enhancers	Primary T cells from cord blood	blood
29	chr2:179863200-179864200	Weak transcription	Fetal Heart	heart
30	chr2:179863400-179863600	Enhancers	GM12878-XiMat	blood
31	chr2:179863400-179863800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:179863400-179864200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:179863600-179863800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:179863600-179863800	Flanking Active TSS	GM12878-XiMat	blood
35	chr2:179863600-179864000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:179863600-179865000	Enhancers	HSMMtube	muscle
37	chr2:179863800-179864600	Enhancers	GM12878-XiMat	blood
38	chr2:179863800-179864800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:179864000-179864200	Enhancers	Right Ventricle	heart
40	chr2:179864000-179875000	Weak transcription	Primary T cells from cord blood	blood
41	chr2:179864000-179885000	Weak transcription	Primary B cells from cord blood	blood
42	chr2:179864200-179865000	Enhancers	Fetal Heart	heart
43	chr2:179864200-179865200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:179864200-179865600	Weak transcription	Right Ventricle	heart
45	chr2:179864800-179866800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:179865000-179866200	Weak transcription	Fetal Heart	heart
47	chr2:179865000-179870600	Weak transcription	HSMMtube	muscle
48	chr2:179865600-179866200	Enhancers	Right Ventricle	heart
49	chr2:179866000-179866200	Enhancers	Psoas Muscle	Psoas
50	chr2:179866200-179867600	Enhancers	Fetal Heart	heart

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