Variant report

Variant	nsv947139
Chromosome Location	chr1:190583389-190605591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:190586705-190586925	HepG2	liver:	n/a	chr1:190586814-190586825
2	CEBPB	chr1:190586704-190586903	K562	blood:	n/a	chr1:190586814-190586825
3	CTCF	chr1:190602722-190602914	Medullo	brain:	n/a	n/a
4	CTCF	chr1:190585020-190585170	GM12864	blood:	n/a	n/a
5	CTCF	chr1:190602680-190602830	GM12870	blood:	n/a	n/a
6	CTCF	chr1:190602720-190602870	GM06990	blood:	n/a	n/a
7	CTCF	chr1:190585029-190585243	GM12878	blood:	n/a	n/a
8	CTCF	chr1:190602740-190602890	HCT-116	colon:	n/a	n/a
9	CTCF	chr1:190585040-190585190	GM12873	blood:	n/a	n/a
10	CTCF	chr1:190585049-190585185	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr1:190602675-190602933	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:190602780-190602930	GM12871	blood:	n/a	n/a
13	CTCF	chr1:190585040-190585190	GM12878	blood:	n/a	n/a
14	CTCF	chr1:190602678-190602947	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:190585060-190585210	GM12867	blood:	n/a	n/a
16	CTCF	chr1:190602740-190602890	GM12865	blood:	n/a	n/a
17	CTCF	chr1:190602740-190602890	GM12873	blood:	n/a	n/a
18	CTCF	chr1:190585040-190585190	HEK293	kidney:	n/a	n/a
19	CTCF	chr1:190585100-190585250	BE2_C	brain:	n/a	n/a
20	CTCF	chr1:190602612-190603021	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:190585040-190585190	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr1:190585040-190585190	NB4	blood:	n/a	n/a
23	CTCF	chr1:190585000-190585150	GM12864	blood:	n/a	n/a
24	CTCF	chr1:190602780-190602930	BE2_C	brain:	n/a	n/a
25	CTCF	chr1:190602780-190602930	AG04450	lung:	n/a	n/a
26	CTCF	chr1:190602780-190602930	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:190602780-190602930	HMEC	breast:	n/a	n/a
28	CTCF	chr1:190585020-190585170	Caco-2	colon:	n/a	n/a
29	CTCF	chr1:190584980-190585307	GM12878	blood:	n/a	n/a
30	CTCF	chr1:190585060-190585210	GM12872	blood:	n/a	n/a
31	CTCF	chr1:190585240-190585390	GM06990	blood:	n/a	n/a
32	CTCF	chr1:190602780-190602930	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr1:190585145-190585210	GM10266	blood:	n/a	n/a
34	CTCF	chr1:190585040-190585190	GM12872	blood:	n/a	n/a
35	CTCF	chr1:190585060-190585210	GM12875	blood:	n/a	n/a
36	CTCF	chr1:190585000-190585228	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr1:190602676-190602917	IMR90	lung:	n/a	n/a
38	CTCF	chr1:190602733-190602851	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr1:190585100-190585250	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr1:190602730-190602890	GM12878	blood:	n/a	n/a
41	CTCF	chr1:190602689-190602928	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:190602720-190602870	HPF	lung:	n/a	n/a
43	CTCF	chr1:190585099-190585195	GM13977	blood:	n/a	n/a
44	CTCF	chr1:190585003-190585266	GM12891	blood:	n/a	n/a
45	CTCF	chr1:190602657-190603100	HCT-116	colon:	n/a	n/a
46	CTCF	chr1:190585140-190585290	A549	lung:	n/a	n/a
47	CTCF	chr1:190585020-190585170	GM12865	blood:	n/a	n/a
48	CTCF	chr1:190602738-190602927	HepG2	liver:	n/a	n/a
49	CTCF	chr1:190602820-190602970	GM12873	blood:	n/a	n/a
50	CTCF	chr1:190602705-190602921	Gliobla	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:190591206..190593247-chr16:68728532..68731192,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-4	chr1:190594020-190594163	ENSG00000231175.1

No data

Variant related genes	Relation type
ENSG00000231175	TF binding region
ENSG00000062038	chromatin interactions

Extended variants
information (count: 455 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368291281	chr1:190583404-190583405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570213075	chr1:190583424-190583425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540752790	chr1:190583452-190583453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371687367	chr1:190583547-190583548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560362674	chr1:190583558-190583559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577203205	chr1:190583574-190583575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575779001	chr1:190583580-190583581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545870179	chr1:190583589-190583590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565232375	chr1:190583602-190583603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10494638	chr1:190583615-190583616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148915372	chr1:190583631-190583632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543104812	chr1:190583634-190583635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202052504	chr1:190583645-190583646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3053522	chr1:190583646-190583647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386369116	chr1:190583647-190583648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397712119	chr1:190583650-190583651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560768578	chr1:190583654-190583655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531709302	chr1:190583656-190583657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181671868	chr1:190583659-190583660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546708397	chr1:190583663-190583664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185600056	chr1:190583685-190583686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114124743	chr1:190583698-190583699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551887161	chr1:190583735-190583736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568829909	chr1:190583777-190583778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375895514	chr1:190583786-190583787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374980274	chr1:190583825-190583826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145566790	chr1:190583847-190583848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138091371	chr1:190583869-190583870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534117389	chr1:190583902-190583903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554284681	chr1:190583906-190583907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562834330	chr1:190583947-190583948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577265814	chr1:190583948-190583949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114463512	chr1:190583949-190583950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533054217	chr1:190583973-190583974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189625700	chr1:190583976-190583977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544125465	chr1:190583993-190583994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560831350	chr1:190583995-190583996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142370368	chr1:190584018-190584019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540050297	chr1:190584022-190584023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146434347	chr1:190584066-190584067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560244732	chr1:190584123-190584124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112063609	chr1:190584124-190584125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552215156	chr1:190584195-190584196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568893296	chr1:190584215-190584216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373590463	chr1:190584224-190584225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181922713	chr1:190584228-190584229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112976331	chr1:190584254-190584255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185433459	chr1:190584270-190584271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534454234	chr1:190584293-190584294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554077285	chr1:190584297-190584298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	17899364	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190582400-190583400	Enhancers	Fetal Heart	heart
2	chr1:190583400-190588800	Weak transcription	Fetal Heart	heart
3	chr1:190585000-190585200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:190585000-190586000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:190585200-190585600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:190585200-190585600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:190585200-190585600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:190585400-190585800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:190588800-190589200	Enhancers	Fetal Heart	heart
10	chr1:190603000-190604800	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links