Variant report

Variant	nsv945924
Chromosome Location	chr1:46300576-46302193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46299700..46301655-chr1:46355026..46357168,2	MCF-7	breast:
2	chr1:46152407..46154517-chr1:46298249..46301344,3	K562	blood:
3	chr1:46298641..46301041-chr1:46305694..46307488,2	K562	blood:
4	chr1:46291760..46294499-chr1:46299751..46301295,2	K562	blood:

Variant related genes	Relation type
ENSG00000159596	chromatin interactions
ENSG00000159592	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 97 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545789885	chr1:46300614-46300615	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569183465	chr1:46300650-46300651	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76713383	chr1:46300657-46300658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148888828	chr1:46300730-46300731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116024407	chr1:46300777-46300778	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543007123	chr1:46300876-46300877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114027049	chr1:46300895-46300896	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138209845	chr1:46300916-46300917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190242133	chr1:46300930-46300931	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142969444	chr1:46301003-46301004	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370586861	chr1:46301004-46301005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532595860	chr1:46301022-46301023	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369025974	chr1:46301032-46301033	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182464622	chr1:46301077-46301078	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374935090	chr1:46301131-46301132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569173977	chr1:46301136-46301137	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530337361	chr1:46301152-46301153	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35616704	chr1:46301171-46301172	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs183455718	chr1:46301179-46301180	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs6673894	chr1:46301182-46301183	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs534706266	chr1:46301203-46301204	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552827238	chr1:46301204-46301205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571442989	chr1:46301221-46301222	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532029041	chr1:46301228-46301229	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs146891040	chr1:46301266-46301267	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373292235	chr1:46301272-46301273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs6674105	chr1:46301379-46301380	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs188183271	chr1:46301383-46301384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180999282	chr1:46301393-46301394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147030590	chr1:46301420-46301421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138330597	chr1:46301423-46301424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540701131	chr1:46301466-46301467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565011906	chr1:46301530-46301531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576941778	chr1:46301542-46301543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77261243	chr1:46301565-46301566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562743997	chr1:46301567-46301568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548721907	chr1:46301571-46301572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530323608	chr1:46301592-46301593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548641226	chr1:46301669-46301670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368685006	chr1:46301704-46301705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554186313	chr1:46301708-46301709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560922775	chr1:46301720-46301721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs61783203	chr1:46301847-46301848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115562052	chr1:46301854-46301855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371975340	chr1:46301999-46302000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376322247	chr1:46302032-46302033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370284757	chr1:46302080-46302081	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369296824	chr1:46302114-46302115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571327824	chr1:46302118-46302119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35217390	chr1:46302181-46302182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46270200-46317000	Weak transcription	Gastric	stomach
2	chr1:46270400-46306600	Weak transcription	Ovary	ovary
3	chr1:46270400-46309600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:46270400-46313400	Weak transcription	Small Intestine	intestine
5	chr1:46270600-46305800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:46270600-46314000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:46270800-46306000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:46270800-46307800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:46271400-46309400	Weak transcription	Fetal Kidney	kidney
10	chr1:46272000-46306800	Weak transcription	Fetal Brain Male	brain
11	chr1:46274600-46309200	Weak transcription	Hela-S3	cervix
12	chr1:46278800-46306400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:46281600-46302600	Weak transcription	Psoas Muscle	Psoas
14	chr1:46281800-46306400	Weak transcription	NH-A	brain
15	chr1:46281800-46309200	Weak transcription	NHLF	lung
16	chr1:46282200-46306400	Weak transcription	NHDF-Ad	bronchial
17	chr1:46285800-46306200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:46287000-46300600	Weak transcription	Brain Substantia Nigra	brain
19	chr1:46287000-46301800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:46287400-46315600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:46288600-46302400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:46288800-46306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:46288800-46315600	Weak transcription	Primary T cells from cord blood	blood
24	chr1:46289800-46302800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:46290200-46302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:46291000-46302600	Weak transcription	Fetal Lung	lung
27	chr1:46291800-46309200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:46291800-46309400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:46292200-46315000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:46292400-46300800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:46292600-46306200	Weak transcription	Osteobl	bone
32	chr1:46292600-46306400	Weak transcription	Fetal Heart	heart
33	chr1:46293000-46302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:46293000-46306600	Weak transcription	Left Ventricle	heart
35	chr1:46293400-46301600	Weak transcription	GM12878-XiMat	blood
36	chr1:46293600-46314000	Weak transcription	HSMMtube	muscle
37	chr1:46295400-46309000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:46295400-46312600	Weak transcription	HSMM	muscle
39	chr1:46295800-46314200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:46296000-46306600	Weak transcription	Fetal Stomach	stomach
41	chr1:46296200-46305600	Weak transcription	HepG2	liver
42	chr1:46296200-46312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:46296600-46306600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:46296800-46314000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:46296800-46315200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:46297000-46303200	Weak transcription	Adipose Nuclei	Adipose
47	chr1:46297000-46305000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:46297000-46305400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:46297000-46314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:46297200-46302000	Weak transcription	Placenta	Placenta

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