Variant report

Variant	esv3452245
Chromosome Location	chr1:45019365-45023963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45018991..45021425-chr1:45022454..45025232,2	K562	blood:
2	chr1:45020474..45024637-chr1:45033502..45037799,4	K562	blood:
3	chr1:45018991..45021425-chr1:45022454..45025232,2	K562	blood:
4	chr1:45009148..45011626-chr1:45017945..45020473,2	K562	blood:

Variant related genes	Relation type
ENSG00000263381	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532075198	chr1:45019397-45019398	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs76472767	chr1:45019440-45019441	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571734265	chr1:45019479-45019480	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534369874	chr1:45019512-45019513	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554191901	chr1:45019515-45019516	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567912706	chr1:45019588-45019589	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536657710	chr1:45019623-45019624	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556590019	chr1:45019631-45019632	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143380293	chr1:45019651-45019652	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148358923	chr1:45019655-45019656	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558749292	chr1:45019689-45019690	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572160615	chr1:45019744-45019745	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199833023	chr1:45019749-45019750	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373196916	chr1:45019751-45019752	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374306279	chr1:45019757-45019758	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543060806	chr1:45019807-45019808	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554402604	chr1:45019815-45019816	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377573578	chr1:45019827-45019828	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6692077	chr1:45019872-45019873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117407275	chr1:45019995-45019996	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141817683	chr1:45020003-45020004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191112073	chr1:45020040-45020041	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77412896	chr1:45020049-45020050	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75051151	chr1:45020074-45020075	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12405833	chr1:45020078-45020079	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs270770	chr1:45020080-45020081	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556619990	chr1:45020116-45020117	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377195558	chr1:45020139-45020140	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147494203	chr1:45020162-45020163	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538987339	chr1:45020183-45020184	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558804805	chr1:45020194-45020195	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577000257	chr1:45020199-45020200	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs61261939	chr1:45020221-45020222	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534527384	chr1:45020228-45020229	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182957277	chr1:45020230-45020231	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554740355	chr1:45020231-45020232	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139974854	chr1:45020287-45020288	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143889678	chr1:45020304-45020305	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147248289	chr1:45020350-45020351	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576453489	chr1:45020372-45020373	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545738871	chr1:45020403-45020404	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559194097	chr1:45020405-45020406	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185064072	chr1:45020511-45020512	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528183237	chr1:45020517-45020518	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576683872	chr1:45020533-45020534	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554571163	chr1:45020541-45020542	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs377593268	chr1:45020543-45020544	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139676577	chr1:45020645-45020646	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117151572	chr1:45020652-45020653	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530449928	chr1:45020691-45020692	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
lymphocytic leukemia	21291569	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	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45022000	Weak transcription	HepG2	liver
2	chr1:45009600-45021200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:45012000-45023200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:45012400-45019600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:45012400-45023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:45012800-45021600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:45012800-45023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:45015600-45020800	Enhancers	Brain Substantia Nigra	brain
10	chr1:45016400-45019600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:45017400-45019600	Enhancers	Stomach Mucosa	stomach
12	chr1:45017600-45020800	Enhancers	Brain Hippocampus Middle	brain
13	chr1:45017800-45019800	Enhancers	Placenta	Placenta
14	chr1:45017800-45021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:45017800-45023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
17	chr1:45018400-45019400	Enhancers	HMEC	breast
18	chr1:45018600-45019600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:45018600-45019800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:45018600-45020000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:45018600-45020000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:45018600-45020000	Enhancers	Hela-S3	cervix
23	chr1:45018600-45020400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:45018600-45020600	Enhancers	HSMM	muscle
25	chr1:45018600-45021000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:45018600-45021000	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:45018600-45021400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:45018800-45019800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:45018800-45020400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:45018800-45021200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:45019000-45019400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:45019000-45020400	Enhancers	NHDF-Ad	bronchial
33	chr1:45019000-45020600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:45019200-45019400	Flanking Active TSS	NHEK	skin
35	chr1:45019200-45019600	Enhancers	A549	lung
36	chr1:45019200-45019800	Enhancers	NH-A	brain
37	chr1:45019200-45020400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:45019200-45020400	Enhancers	Osteobl	bone
39	chr1:45019200-45020800	Enhancers	Brain Angular Gyrus	brain
40	chr1:45019200-45021000	Enhancers	Brain Anterior Caudate	brain
41	chr1:45019200-45021400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:45019400-45019600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:45019400-45019800	Enhancers	NHEK	skin
44	chr1:45019400-45020000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:45019400-45020400	Flanking Active TSS	HMEC	breast
46	chr1:45019400-45021000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:45019600-45019800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:45019600-45019800	Flanking Active TSS	A549	lung
49	chr1:45019600-45020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:45019600-45020400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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