Variant report

Variant	nsv999471
Chromosome Location	chr1:79650363-79774433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:79717844..79719500-chr13:74206627..74209123,2	MCF-7	breast:
2	chr1:79304951..79305958-chr1:79662942..79663752,3	MCF-7	breast:
3	chr1:79725343..79726033-chr1:79818640..79819391,2	MCF-7	breast:
4	chr1:79728080..79730865-chr1:79731789..79734341,2	K562	blood:
5	chr1:79154179..79155005-chr1:79663219..79663974,2	MCF-7	breast:
6	chr1:79744482..79747181-chr12:54772744..54775487,2	MCF-7	breast:
7	chr1:79728080..79730865-chr1:79731789..79734341,2	K562	blood:
8	chr1:79702123..79704938-chr10:125479865..125482682,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFI44-2	chr1:79735992-79736371	XLOC_000266
2	lnc-IFI44-2	chr1:79736086-79736371	XLOC_000266
3	lnc-IFI44-2	chr1:79735991-79736371	NONHSAT004088

No data

Variant related genes	Relation type
ENSG00000161642	chromatin interactions
BCL11A	miRNA target sites

Extended variants
information (count: 3624 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3624 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527780614	chr1:79650368-79650369	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559482734	chr1:79650403-79650404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184790655	chr1:79650424-79650425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533492772	chr1:79650469-79650470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs58554484	chr1:79650570-79650571	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563735500	chr1:79650600-79650601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528551384	chr1:79650619-79650620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548416890	chr1:79650643-79650644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11576357	chr1:79650659-79650660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs228556	chr1:79650782-79650783	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567593377	chr1:79650838-79650839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187541586	chr1:79650840-79650841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs201883475	chr1:79650841-79650842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546604453	chr1:79650854-79650855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192580524	chr1:79650855-79650856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538214045	chr1:79650871-79650872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550282729	chr1:79650884-79650885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184429109	chr1:79650896-79650897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537256951	chr1:79650929-79650930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532686593	chr1:79650931-79650932	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574320857	chr1:79651011-79651012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569183160	chr1:79651073-79651074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140974660	chr1:79651162-79651163	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553363900	chr1:79651163-79651164	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189663256	chr1:79651228-79651229	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375395643	chr1:79651238-79651239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563785101	chr1:79651272-79651273	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142461803	chr1:79651274-79651275	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542892403	chr1:79651277-79651278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs72680304	chr1:79651315-79651316	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181304689	chr1:79651330-79651331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370656069	chr1:79651334-79651335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553488664	chr1:79651383-79651384	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs151245645	chr1:79651512-79651513	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs531983715	chr1:79651517-79651518	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566965501	chr1:79651518-79651519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550119165	chr1:79651525-79651526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568093054	chr1:79651570-79651571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568650959	chr1:79651604-79651605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535938677	chr1:79651634-79651635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534686112	chr1:79651639-79651640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549580833	chr1:79651661-79651662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567741043	chr1:79651663-79651664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535183393	chr1:79651676-79651677	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375431247	chr1:79651737-79651738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs578240547	chr1:79651784-79651785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552388789	chr1:79651805-79651806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184497033	chr1:79651810-79651811	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs557391981	chr1:79651847-79651848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555547612	chr1:79651886-79651887	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79649600-79654000	Active TSS	Adipose Nuclei	Adipose
2	chr1:79652400-79655600	Enhancers	Hela-S3	cervix
3	chr1:79652600-79653400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:79653000-79653200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:79653200-79653400	Enhancers	HUVEC	blood vessel
6	chr1:79653200-79653600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:79653200-79653800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr1:79653200-79653800	Active TSS	Fetal Muscle Leg	muscle
9	chr1:79653400-79654000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:79653400-79654200	Flanking Active TSS	HUVEC	blood vessel
11	chr1:79653400-79654400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:79653600-79654200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:79653600-79655600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:79653800-79654600	Enhancers	NH-A	brain
15	chr1:79654000-79654200	Enhancers	GM12878-XiMat	blood
16	chr1:79654000-79654400	Enhancers	HMEC	breast
17	chr1:79654000-79654600	Enhancers	Osteobl	bone
18	chr1:79654000-79654800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:79654200-79655600	Enhancers	HUVEC	blood vessel
20	chr1:79654200-79659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:79654400-79658800	Weak transcription	GM12878-XiMat	blood
22	chr1:79654400-79658800	Weak transcription	HMEC	breast
23	chr1:79654400-79659000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:79654600-79658800	Weak transcription	NH-A	brain
25	chr1:79654600-79658800	Weak transcription	Osteobl	bone
26	chr1:79654800-79658800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:79655600-79657800	Weak transcription	HUVEC	blood vessel
28	chr1:79655600-79658000	Weak transcription	Hela-S3	cervix
29	chr1:79655600-79658800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:79656200-79656800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:79656400-79656600	Enhancers	Thymus	Thymus
32	chr1:79656800-79657000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:79656800-79658200	Weak transcription	Thymus	Thymus
34	chr1:79656800-79658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:79657800-79658800	Enhancers	HUVEC	blood vessel
36	chr1:79658000-79658800	Enhancers	Hela-S3	cervix
37	chr1:79658000-79659800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:79658200-79659200	Enhancers	Thymus	Thymus
39	chr1:79658400-79658800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:79658400-79659000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:79658600-79658800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:79658600-79659400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:79658600-79659400	Enhancers	Fetal Thymus	thymus
44	chr1:79658800-79659000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:79658800-79659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:79658800-79659000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:79658800-79659000	Active TSS	Adipose Nuclei	Adipose
48	chr1:79658800-79659000	Enhancers	HMEC	breast
49	chr1:79658800-79659000	Enhancers	Osteobl	bone
50	chr1:79658800-79659200	Flanking Active TSS	Hela-S3	cervix

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