Variant report

Variant	nsv946025
Chromosome Location	chr1:84994569-84999424
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:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:84995696..84997631-chr1:85003471..85004993,2	K562	blood:
2	chr1:84996000..84999879-chr1:85038519..85041432,4	K562	blood:
3	chr1:84999252..85001444-chr1:85004110..85006377,3	K562	blood:
4	chr1:84999252..85002041-chr1:85004361..85006416,3	K562	blood:
5	chr1:84995696..84999136-chr1:85001820..85006915,7	K562	blood:
6	chr1:84944848..84947822-chr1:84994822..84997478,2	K562	blood:
7	chr1:84993653..84995559-chr1:84998867..85001554,3	K562	blood:
8	chr1:84993653..84995559-chr1:84998867..85001554,3	K562	blood:
9	chr1:84969735..84979623-chr1:84983174..84994888,16	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPF1-1	chr1:84999393-84999449	NONHSAT004209
2	lnc-RPF1-1	chr1:84999392-84999449	NONHSAT004204
3	lnc-RPF1-1	chr1:84998548-84998657	NONHSAT139873
4	lnc-RPF1-1	chr1:84998543-84998657	NONHSAT004204
5	lnc-RPF1-1	chr1:84999392-84999449	NONHSAT139873
6	lnc-RPF1-1	chr1:84999396-84999449	NONHSAT004207
7	lnc-RPF1-1	chr1:84998543-84998657	NONHSAT004207
8	lnc-RPF1-1	chr1:84998545-84998655	NONHSAT004209

No data

Variant related genes	Relation type
ENSG00000122432	chromatin interactions
ENSG00000117151	chromatin interactions
ENSG00000117133	chromatin interactions
ENSG00000174021	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555435586	chr1:84994589-84994590	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572518700	chr1:84994623-84994624	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541735472	chr1:84994672-84994673	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs72068929	chr1:84994683-84994684	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11808736	chr1:84994692-84994693	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs578199423	chr1:84994694-84994695	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543622280	chr1:84994717-84994718	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562835713	chr1:84994738-84994739	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139073262	chr1:84994766-84994767	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11809062	chr1:84994777-84994778	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548394863	chr1:84994809-84994810	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192816156	chr1:84994848-84994849	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs111247858	chr1:84994964-84994965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528939541	chr1:84994991-84994992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148878291	chr1:84995036-84995037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11163998	chr1:84995056-84995057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559085422	chr1:84995110-84995111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528118634	chr1:84995135-84995136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs66615264	chr1:84995260-84995261	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373208771	chr1:84995302-84995303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375673171	chr1:84995303-84995304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571236631	chr1:84995346-84995347	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111709167	chr1:84995363-84995364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550469604	chr1:84995364-84995365	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567464409	chr1:84995381-84995382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535573149	chr1:84995394-84995395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143303707	chr1:84995452-84995453	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs367673309	chr1:84995486-84995487	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535044771	chr1:84995524-84995525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71582921	chr1:84995556-84995557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528904463	chr1:84995590-84995591	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558202984	chr1:84995626-84995627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146699883	chr1:84995665-84995666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182703491	chr1:84995700-84995701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370505954	chr1:84995705-84995706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574223122	chr1:84995818-84995819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186654912	chr1:84995862-84995863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191544056	chr1:84995871-84995872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4907079	chr1:84995872-84995873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs140064601	chr1:84995876-84995877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149879285	chr1:84996043-84996044	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564555235	chr1:84996103-84996104	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs17374628	chr1:84996177-84996178	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549089003	chr1:84996212-84996213	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184863221	chr1:84996214-84996215	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190809728	chr1:84996228-84996229	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs10493752	chr1:84996256-84996257	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549187795	chr1:84996292-84996293	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192896849	chr1:84996503-84996504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1246253	chr1:84996506-84996507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:84985000-84994800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:84987000-85003200	Weak transcription	Left Ventricle	heart
11	chr1:84988200-85020600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:84991000-85034200	Weak transcription	Esophagus	oesophagus
13	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
14	chr1:84991800-85026800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:84992000-85003200	Weak transcription	GM12878-XiMat	blood
16	chr1:84992000-85003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:84992200-85003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:84992200-85026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:84992400-85019400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:84992600-85005600	Weak transcription	Osteobl	bone
22	chr1:84992600-85021200	Weak transcription	NHDF-Ad	bronchial
23	chr1:84993200-85025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:84993400-85025800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:84993400-85027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:84993600-84994600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:84993600-85026800	Weak transcription	HSMM	muscle
28	chr1:84993800-84994600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:84993800-84994600	Strong transcription	Liver	Liver
30	chr1:84993800-84994800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:84993800-84995400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:84994000-84998800	Weak transcription	Spleen	Spleen
33	chr1:84994000-85026600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:84994400-84994600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:84994400-84994600	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr1:84994600-84996200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:84994600-85001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:84994600-85003000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:84994600-85003400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:84994600-85003400	Weak transcription	Liver	Liver
41	chr1:84994600-85008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:84994800-85008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:84995000-85028600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:84995200-84998400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:84995400-84997800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:84995400-85020600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:84996200-84999000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:84997800-84998600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:84998400-85003000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:84998600-85003200	Weak transcription	Primary monocytes fromperipheralblood	blood

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