Variant report

Variant	nsv945919
Chromosome Location	chr1:45879534-45884067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:45881162-45881298	H1-hESC	embryonic stem cell:	n/a	chr1:45881200-45881209 chr1:45881200-45881209 chr1:45881199-45881210
2	CEBPB	chr1:45881026-45881308	HepG2	liver:	n/a	chr1:45881200-45881209 chr1:45881200-45881209 chr1:45881199-45881210
3	CEBPB	chr1:45881081-45881319	A549	lung:	n/a	chr1:45881200-45881209 chr1:45881200-45881209 chr1:45881199-45881210
4	CEBPB	chr1:45881093-45881271	Hela-S3	cervix:	n/a	chr1:45881200-45881209 chr1:45881200-45881209 chr1:45881199-45881210
5	CTCF	chr1:45880642-45880739	K562	blood:	n/a	n/a
6	CTCF	chr1:45880604-45880727	K562	blood:	n/a	n/a
7	CTCF	chr1:45881833-45881886	Kidney_OC	kidney:	n/a	n/a
8	ZNF384	chr1:45881620-45881913	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45806484..45809522-chr1:45876686..45880375,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOE1-1	chr1:45880692-45881016	NONHSAT002940

Variant related genes	Relation type
ENSG00000236872	TF binding region
ENSG00000132773	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs367714376	chr1:45879547-45879548	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187896737	chr1:45879586-45879587	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376035144	chr1:45879588-45879589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs59474035	chr1:45879656-45879657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572316102	chr1:45879682-45879683	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183694670	chr1:45879702-45879703	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35274276	chr1:45879739-45879740	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560845252	chr1:45879777-45879778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34830599	chr1:45879812-45879813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114468319	chr1:45879825-45879826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189711019	chr1:45879864-45879865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562174962	chr1:45879868-45879869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192712180	chr1:45879902-45879903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551950221	chr1:45879916-45879917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565681140	chr1:45879957-45879958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528046858	chr1:45880001-45880002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548159276	chr1:45880002-45880003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553405758	chr1:45880051-45880052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11808204	chr1:45880074-45880075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536882123	chr1:45880121-45880122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531563598	chr1:45880210-45880211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556695354	chr1:45880241-45880242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143110423	chr1:45880291-45880292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111262657	chr1:45880339-45880340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185070253	chr1:45880365-45880366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562483956	chr1:45880376-45880377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558733690	chr1:45880397-45880398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116011329	chr1:45880399-45880400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189942515	chr1:45880426-45880427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs781229	chr1:45880427-45880428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs202079120	chr1:45880428-45880429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139817306	chr1:45880490-45880491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142089051	chr1:45880525-45880526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543282658	chr1:45880540-45880541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563512204	chr1:45880551-45880552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576921471	chr1:45880574-45880575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545888182	chr1:45880575-45880576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559181791	chr1:45880590-45880591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12097497	chr1:45880669-45880670	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs117931068	chr1:45880670-45880671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181704619	chr1:45880681-45880682	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530439401	chr1:45880746-45880747	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs781230	chr1:45880751-45880752	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs75590435	chr1:45880779-45880780	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs538853205	chr1:45880842-45880843	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs552679056	chr1:45880960-45880961	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs186361109	chr1:45880991-45880992	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534725458	chr1:45881007-45881008	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs554562426	chr1:45881083-45881084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112764047	chr1:45881098-45881099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45841400-45889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:45869400-45885400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:45875600-45889400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:45876600-45880000	Enhancers	Primary B cells from cord blood	blood
5	chr1:45876600-45880400	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:45876600-45881600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:45876800-45887800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:45877000-45886800	Weak transcription	Liver	Liver
9	chr1:45877200-45887800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:45877200-45888200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:45877400-45886800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:45877400-45889200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:45877600-45887400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:45877600-45889600	Weak transcription	Placenta	Placenta
15	chr1:45878200-45879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:45878600-45879600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:45878600-45879600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:45878600-45880200	Enhancers	Brain Hippocampus Middle	brain
19	chr1:45878600-45880800	Enhancers	Brain Substantia Nigra	brain
20	chr1:45878600-45881400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:45878800-45879600	Enhancers	Brain Anterior Caudate	brain
22	chr1:45878800-45879600	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:45878800-45880200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:45879000-45879800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:45879000-45881800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:45879000-45887200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:45879600-45880200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:45879600-45882000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:45879600-45882200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:45879600-45887800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:45879600-45887800	Weak transcription	Brain Anterior Caudate	brain
32	chr1:45879800-45889200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:45880000-45887000	Weak transcription	Primary B cells from cord blood	blood
34	chr1:45880200-45880400	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:45880200-45895600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:45880400-45880800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:45880400-45882000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:45880800-45890000	Weak transcription	Brain Substantia Nigra	brain
39	chr1:45881400-45886800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:45881600-45885400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:45882000-45882400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:45882000-45882600	Enhancers	Primary B cells from peripheral blood	blood
43	chr1:45882200-45882600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr1:45882600-45886600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:45882600-45886800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:45883000-45888000	Weak transcription	Rectal Smooth Muscle	rectum

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