Variant report

Variant	nsv532505
Chromosome Location	chr1:45303803-45307152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45306981..45310503-chr1:45474976..45481200,7	K562	blood:
2	chr1:45239193..45241536-chr1:45303716..45305875,2	MCF-7	breast:
3	chr1:45194535..45197095-chr1:45307118..45309179,4	K562	blood:
4	chr1:45305082..45310090-chr1:45475264..45482808,8	K562	blood:
5	chr1:45306094..45308477-chr1:45314879..45317391,2	K562	blood:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45195257..45196854-chr1:45307118..45309179,2	K562	blood:

Variant related genes	Relation type
ENSG00000225721	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000198520	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575168006	chr1:45303856-45303857	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs372277187	chr1:45303885-45303886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs11573555	chr1:45303955-45303956	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs11573554	chr1:45303959-45303960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187708168	chr1:45304006-45304007	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs191084117	chr1:45304007-45304008	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs540104964	chr1:45304027-45304028	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs373442797	chr1:45304036-45304037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs11573553	chr1:45304165-45304166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs563634640	chr1:45304182-45304183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs542578413	chr1:45304192-45304193	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs574034976	chr1:45304201-45304202	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs531367268	chr1:45304202-45304203	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs551273224	chr1:45304203-45304204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs542796906	chr1:45304210-45304211	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs374886640	chr1:45304211-45304212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs546501233	chr1:45304246-45304247	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs559869593	chr1:45304251-45304252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs11573552	chr1:45304265-45304266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35122960	chr1:45304266-45304267	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs367576004	chr1:45304274-45304275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs11573551	chr1:45304279-45304280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs11573550	chr1:45304366-45304367	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546887931	chr1:45304377-45304378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs374578566	chr1:45304378-45304379	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs369412118	chr1:45304401-45304402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs115723584	chr1:45304404-45304405	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs201954680	chr1:45304405-45304406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs12729917	chr1:45304406-45304407	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs75963521	chr1:45304416-45304417	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs183274061	chr1:45304428-45304429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs373185890	chr1:45304444-45304445	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs568896878	chr1:45304454-45304455	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs376160581	chr1:45304506-45304507	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs545444972	chr1:45304508-45304509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs531978604	chr1:45304512-45304513	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs577558869	chr1:45304517-45304518	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs533938249	chr1:45304538-45304539	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs553703735	chr1:45304648-45304649	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs200547824	chr1:45304660-45304661	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs187640294	chr1:45304681-45304682	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs371278645	chr1:45304764-45304765	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs57139686	chr1:45304774-45304775	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs576099286	chr1:45304850-45304851	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs11573549	chr1:45304854-45304855	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs117677634	chr1:45304857-45304858	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs530927744	chr1:45304859-45304860	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs149973471	chr1:45304861-45304862	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs192131191	chr1:45304865-45304866	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs139398511	chr1:45304903-45304904	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	6 gene(s)	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	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45286400-45308400	Weak transcription	Aorta	Aorta
2	chr1:45287200-45307400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:45289400-45307600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:45292400-45308200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:45294000-45308200	Weak transcription	Gastric	stomach
6	chr1:45295400-45308400	Weak transcription	Right Ventricle	heart
7	chr1:45295800-45305600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:45295800-45308000	Weak transcription	Brain Germinal Matrix	brain
9	chr1:45296000-45307600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:45297000-45305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:45297000-45305200	Weak transcription	Ovary	ovary
12	chr1:45297400-45305200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:45298000-45305200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:45298000-45305400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:45298000-45308200	Weak transcription	Spleen	Spleen
16	chr1:45298200-45305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:45298800-45308200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:45301800-45305200	Weak transcription	Fetal Lung	lung
19	chr1:45301800-45307400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:45302000-45305200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:45302000-45305200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:45302000-45305200	Weak transcription	Fetal Brain Male	brain
23	chr1:45302000-45306400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:45302000-45307200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:45302000-45307400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:45302000-45307400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:45302000-45307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:45302000-45307600	Weak transcription	K562	blood
29	chr1:45302000-45308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:45302000-45308200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:45302000-45308200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:45302000-45308200	Weak transcription	NHDF-Ad	bronchial
33	chr1:45302000-45308200	Weak transcription	Osteobl	bone
34	chr1:45302000-45308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:45302000-45308400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:45302000-45308400	Weak transcription	HUVEC	blood vessel
37	chr1:45302200-45304600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:45302200-45304600	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:45302200-45305200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:45302200-45305200	Weak transcription	Fetal Brain Female	brain
41	chr1:45302200-45307200	Weak transcription	Brain Angular Gyrus	brain
42	chr1:45302200-45308200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:45302400-45304600	Strong transcription	Fetal Stomach	stomach
44	chr1:45302400-45307600	Weak transcription	Fetal Intestine Small	intestine
45	chr1:45302400-45308400	Weak transcription	Right Atrium	heart
46	chr1:45302600-45307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:45302800-45307800	Weak transcription	Fetal Kidney	kidney
48	chr1:45302800-45308200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:45302800-45308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:45302800-45308200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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