Variant report

Variant	nsv946151
Chromosome Location	chr1:113991855-113993861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:113991776-113991925	K562	blood:	n/a	n/a
2	CTCF	chr1:113992804-113992914	GM10248	blood:	n/a	n/a
3	CTCF	chr1:113992898-113993034	GM13977	blood:	n/a	n/a
4	HEY1	chr1:113992898-113993180	HepG2	liver:	n/a	n/a
5	HEY1	chr1:113992390-113992678	K562	blood:	n/a	n/a
6	HEY1	chr1:113992727-113993069	K562	blood:	n/a	n/a
7	HEY1	chr1:113993456-113993670	HepG2	liver:	n/a	n/a
8	HEY1	chr1:113993418-113993664	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:113992785-113993710	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:113992761-113993270	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:113992810-113993206	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:113992283-113992668	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:113993367-113993694	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:113992959-113993191	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:113992608-113993245	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:113992364-113992630	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:113993303-113993669	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr1:113992985-113993233	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB33	chr1:113993032-113993454	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113931751..113937304-chr1:113991927..113997733,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRIG2-10	chr1:113992322-113993350	NONHSAT005325

No data

Variant related genes	Relation type
ENSG00000232499	TF binding region
ENSG00000081026	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570433577	chr1:113991861-113991862	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533011106	chr1:113991862-113991863	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549758903	chr1:113991891-113991892	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150548513	chr1:113991914-113991915	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs544722553	chr1:113991924-113991925	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533246065	chr1:113991930-113991931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555145574	chr1:113991943-113991944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563033461	chr1:113991960-113991961	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112875235	chr1:113991982-113991983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187650445	chr1:113992010-113992011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71087199	chr1:113992011-113992012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568703545	chr1:113992013-113992014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534411751	chr1:113992014-113992015	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192618712	chr1:113992017-113992018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577617726	chr1:113992025-113992026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546142388	chr1:113992125-113992126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556562224	chr1:113992209-113992210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34091729	chr1:113992210-113992211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201813852	chr1:113992218-113992219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576356250	chr1:113992228-113992229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61734693	chr1:113992322-113992323	Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs370321069	chr1:113992332-113992333	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs561831745	chr1:113992371-113992372	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs374322738	chr1:113992426-113992427	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs139510870	chr1:113992429-113992430	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs540828282	chr1:113992451-113992452	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs367550095	chr1:113992462-113992463	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs12025806	chr1:113992475-113992476	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533298353	chr1:113992491-113992492	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs201163233	chr1:113992496-113992497	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs549801272	chr1:113992507-113992508	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs563320784	chr1:113992533-113992534	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs188621301	chr1:113992552-113992553	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs548926522	chr1:113992578-113992579	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs146229872	chr1:113992594-113992595	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs534659503	chr1:113992599-113992600	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs548022470	chr1:113992607-113992608	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs571050981	chr1:113992616-113992617	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs540173127	chr1:113992661-113992662	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs74894134	chr1:113992710-113992711	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs55672102	chr1:113992754-113992755	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs369637776	chr1:113992802-113992803	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs556557793	chr1:113992810-113992811	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs576419502	chr1:113992824-113992825	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs192321234	chr1:113992840-113992841	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs372493685	chr1:113992900-113992901	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs184529904	chr1:113992930-113992931	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs139432526	chr1:113992931-113992932	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs144130771	chr1:113992932-113992933	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs190065447	chr1:113992942-113992943	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113985000-113999000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:113987000-113992800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:113987800-113996000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:113988400-113994400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:113992800-113993000	Enhancers	Stomach Mucosa	stomach
6	chr1:113992800-113993400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:113993000-113994200	Weak transcription	Stomach Mucosa	stomach
8	chr1:113993400-113994600	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links