Variant report

Variant	nsv818700
Chromosome Location	chr1:191798964-191840926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:233)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:233 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:191812278-191812435	K562	blood:	n/a	n/a
2	ATF1	chr1:191821456-191821889	K562	blood:	n/a	n/a
3	ATF2	chr1:191838896-191839199	GM12878	blood:	n/a	n/a
4	ATF3	chr1:191820973-191821210	K562	blood:	n/a	n/a
5	BATF	chr1:191838976-191839163	GM12878	blood:	n/a	n/a
6	CEBPB	chr1:191830317-191830421	K562	blood:	n/a	n/a
7	CEBPB	chr1:191834813-191834972	H1-hESC	embryonic stem cell:	n/a	chr1:191834839-191834850
8	CEBPB	chr1:191834701-191834983	HepG2	liver:	n/a	chr1:191834839-191834850
9	CEBPB	chr1:191805286-191805538	A549	lung:	n/a	n/a
10	CEBPB	chr1:191834712-191834974	K562	blood:	n/a	chr1:191834839-191834850
11	CEBPB	chr1:191808825-191809415	IMR90	lung:	n/a	n/a
12	CEBPB	chr1:191834758-191834987	A549	lung:	n/a	chr1:191834839-191834850
13	CEBPB	chr1:191834669-191835023	IMR90	lung:	n/a	chr1:191834839-191834850
14	CTCF	chr1:191800780-191800930	HCFaa	heart:	n/a	n/a
15	CTCF	chr1:191800780-191800930	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr1:191800700-191800970	GM12871	blood:	n/a	n/a
17	CTCF	chr1:191800819-191800986	GM12878	blood:	n/a	n/a
18	CTCF	chr1:191800620-191800770	A549	lung:	n/a	n/a
19	CTCF	chr1:191800760-191800910	BE2_C	brain:	n/a	n/a
20	CTCF	chr1:191800840-191800990	NB4	blood:	n/a	n/a
21	CTCF	chr1:191800840-191800990	HCT-116	colon:	n/a	n/a
22	CTCF	chr1:191800800-191800950	GM12865	blood:	n/a	n/a
23	CTCF	chr1:191800858-191800921	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr1:191800826-191800985	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr1:191800852-191800929	GM19239	blood:	n/a	n/a
26	CTCF	chr1:191800840-191800990	Caco-2	colon:	n/a	n/a
27	CTCF	chr1:191800820-191800970	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:191829720-191829870	GM12868	blood:	n/a	n/a
29	CTCF	chr1:191800840-191800990	K562	blood:	n/a	n/a
30	CTCF	chr1:191800800-191800950	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr1:191800780-191800930	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:191800880-191801030	HMEC	breast:	n/a	n/a
33	CTCF	chr1:191800800-191800950	GM12868	blood:	n/a	n/a
34	CTCF	chr1:191800820-191800970	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:191800820-191800970	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr1:191800780-191800930	NHEK	skin:	n/a	n/a
37	CTCF	chr1:191830403-191830439	Medullo	brain:	n/a	n/a
38	CTCF	chr1:191800800-191800950	AG04449	skin:	n/a	n/a
39	CTCF	chr1:191800860-191801010	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr1:191800840-191800990	AG04450	lung:	n/a	n/a
41	CTCF	chr1:191800820-191800970	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr1:191800840-191800990	HRE	kidney:	n/a	n/a
43	CTCF	chr1:191800840-191800990	GM12869	blood:	n/a	n/a
44	CTCF	chr1:191800840-191800990	HAc	cerebellar:	n/a	n/a
45	CTCF	chr1:191800860-191801010	NHEK	skin:	n/a	n/a
46	CTCF	chr1:191800820-191800970	GM12873	blood:	n/a	n/a
47	CTCF	chr1:191800792-191801016	LNCaP	prostate:	n/a	n/a
48	CTCF	chr1:191800704-191800990	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:191800709-191801067	K562	blood:	n/a	n/a
50	CTCF	chr1:191800776-191801024	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
2	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
3	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:
4	chr1:191836436..191839226-chr1:191842786..191844832,2	K562	blood:
5	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:
6	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:
7	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:
8	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:
9	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-3	chr1:191835950-191836090	XLOC_001132
2	lnc-UCHL5-3	chr1:191827893-191828310	XLOC_001132
3	lnc-UCHL5-3	chr1:191827837-191828310	XLOC_001132

No data

Variant related genes	Relation type
ENSG00000228215	TF binding region
ENSG00000223344	TF binding region
ENSG00000228215	chromatin interactions
CCNT2	miRNA target sites

Extended variants
information (count: 383 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6677918	chr1:191808615-191808616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187315621	chr1:191808630-191808631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532311365	chr1:191808658-191808659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556505355	chr1:191808660-191808661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573325523	chr1:191808687-191808688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9427788	chr1:191808870-191808871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374460695	chr1:191808906-191808907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528278095	chr1:191808920-191808921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34028123	chr1:191808948-191808949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192696378	chr1:191809014-191809015	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113619041	chr1:191809043-191809044	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs374520050	chr1:191809078-191809079	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368963298	chr1:191809117-191809118	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs68152149	chr1:191809124-191809125	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs398049920	chr1:191809125-191809126	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75943298	chr1:191809133-191809134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7556435	chr1:191809160-191809161	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs550309900	chr1:191809209-191809210	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs72729233	chr1:191809221-191809222	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542776987	chr1:191809287-191809288	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs71669691	chr1:191809295-191809296	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs60425791	chr1:191809296-191809297	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142400282	chr1:191809299-191809300	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201147936	chr1:191809300-191809301	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537875720	chr1:191809321-191809322	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183777625	chr1:191809332-191809333	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188303694	chr1:191809399-191809400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535333102	chr1:191809418-191809419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557892451	chr1:191809434-191809435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571522524	chr1:191809444-191809445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147560441	chr1:191809510-191809511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141971878	chr1:191809586-191809587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34485012	chr1:191809590-191809591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367853352	chr1:191809596-191809597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1953961	chr1:191809633-191809634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144881823	chr1:191809641-191809642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376650581	chr1:191809651-191809652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553227155	chr1:191809661-191809662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1953960	chr1:191809669-191809670	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545297125	chr1:191809682-191809683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565035367	chr1:191809756-191809757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145875765	chr1:191809759-191809760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530744961	chr1:191809812-191809813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532250369	chr1:191812006-191812007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141960363	chr1:191812035-191812036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7520904	chr1:191812041-191812042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs10801072	chr1:191812047-191812048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554877415	chr1:191812048-191812049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568146281	chr1:191812079-191812080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569870090	chr1:191812084-191812085	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191808600-191809000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:191808800-191809000	Enhancers	NH-A	brain
3	chr1:191808800-191810000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:191809000-191809400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:191809000-191809400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:191809000-191809400	Enhancers	Fetal Heart	heart
7	chr1:191809000-191809400	Flanking Active TSS	NH-A	brain
8	chr1:191809000-191809800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:191809200-191809600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:191809200-191809800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:191809400-191809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:191812000-191812800	Enhancers	HUVEC	blood vessel
13	chr1:191813000-191813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:191820600-191821800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:191820800-191821600	Enhancers	NH-A	brain
16	chr1:191820800-191822400	Enhancers	K562	blood
17	chr1:191820800-191823400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:191821000-191822200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:191821400-191822000	Enhancers	Dnd41	blood
20	chr1:191821800-191823200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:191827000-191827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:191829000-191829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:191839000-191840400	Enhancers	GM12878-XiMat	blood
24	chr1:191840200-191841200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links