Variant report

Variant	nsv1002522
Chromosome Location	chr1:80210698-80532133
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:80436532..80438165-chr1:80446885..80448789,2	K562	blood:
2	chr1:80380861..80381772-chr1:80785065..80785571,2	K562	blood:
3	chr1:80375215..80377919-chr1:80380333..80383065,2	K562	blood:
4	chr1:80436532..80438165-chr1:80446885..80448789,2	K562	blood:
5	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
6	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
7	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
8	chr1:80375215..80377919-chr1:80380333..80383065,2	K562	blood:
9	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
10	chr1:80330992..80332492-chr17:59388398..59390197,2	MCF-7	breast:

No data

Extended variants
information (count: 4512 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4512 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533639894	chr1:80211643-80211644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147730666	chr1:80211655-80211656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112432166	chr1:80211662-80211663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183449776	chr1:80211724-80211725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375615407	chr1:80211736-80211737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551929336	chr1:80211768-80211769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570223481	chr1:80211829-80211830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537545954	chr1:80211870-80211871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374214994	chr1:80211874-80211875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116560176	chr1:80211895-80211896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187779395	chr1:80211896-80211897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542094291	chr1:80211897-80211898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147451832	chr1:80211928-80211929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577536139	chr1:80211996-80211997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544866139	chr1:80212013-80212014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575710910	chr1:80212049-80212050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373849145	chr1:80212076-80212077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12134064	chr1:80212089-80212090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575046293	chr1:80212091-80212092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542453920	chr1:80212096-80212097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34124755	chr1:80212104-80212105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs398089381	chr1:80212106-80212107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561077903	chr1:80212125-80212126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114943547	chr1:80212129-80212130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12732588	chr1:80212135-80212136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376048609	chr1:80212156-80212157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564840954	chr1:80212175-80212176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74693896	chr1:80212190-80212191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148520841	chr1:80212193-80212194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74099137	chr1:80212227-80212228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76047055	chr1:80212231-80212232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528442633	chr1:80212239-80212240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191131659	chr1:80212266-80212267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201606872	chr1:80212278-80212279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183685295	chr1:80212395-80212396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534778301	chr1:80212421-80212422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546985486	chr1:80212464-80212465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142867092	chr1:80212482-80212483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11586492	chr1:80212501-80212502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556882610	chr1:80212502-80212503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575178182	chr1:80212579-80212580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370779490	chr1:80215086-80215087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570617670	chr1:80215096-80215097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180761767	chr1:80215119-80215120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4575036	chr1:80215154-80215155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186201645	chr1:80215161-80215162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556029500	chr1:80215175-80215176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554572379	chr1:80215184-80215185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372964989	chr1:80215185-80215186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4642838	chr1:80215187-80215188	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80211600-80212200	Enhancers	HUVEC	blood vessel
2	chr1:80211800-80212600	Enhancers	Stomach Mucosa	stomach
3	chr1:80212000-80212200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:80215000-80215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:80226000-80226400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:80226000-80226600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:80226200-80226800	Enhancers	Adipose Nuclei	Adipose
8	chr1:80242000-80243800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:80243000-80243400	Enhancers	Fetal Heart	heart
10	chr1:80243000-80243800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:80243000-80244600	Enhancers	GM12878-XiMat	blood
12	chr1:80243200-80244000	Enhancers	Primary B cells from peripheral blood	blood
13	chr1:80247200-80250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:80249200-80250800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:80249400-80251400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:80250600-80250800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:80250800-80251400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:80251400-80251600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:80251600-80257600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:80256800-80257200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:80257000-80257200	Enhancers	Pancreas	Pancrea
22	chr1:80257000-80258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:80257200-80257800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:80257200-80258000	Weak transcription	Pancreas	Pancrea
25	chr1:80257200-80258400	Enhancers	Aorta	Aorta
26	chr1:80257600-80258200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:80257600-80258600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:80258000-80258200	Enhancers	Pancreas	Pancrea
29	chr1:80258200-80267400	Weak transcription	Pancreas	Pancrea
30	chr1:80262600-80262800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:80262800-80264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:80263000-80264000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:80269200-80269600	Enhancers	Fetal Heart	heart
34	chr1:80269200-80269800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:80271200-80272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:80271600-80271800	Enhancers	Pancreas	Pancrea
37	chr1:80271600-80272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:80272000-80272600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:80275800-80276000	Enhancers	NHLF	lung
40	chr1:80275800-80278000	Enhancers	HUVEC	blood vessel
41	chr1:80276000-80278600	Weak transcription	NHLF	lung
42	chr1:80276600-80277800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:80276600-80278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:80276800-80277400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:80276800-80277400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:80276800-80278400	Enhancers	NHEK	skin
47	chr1:80276800-80279000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:80277200-80277600	Enhancers	HSMMtube	muscle
49	chr1:80277200-80277600	Enhancers	NH-A	brain
50	chr1:80277200-80277800	Enhancers	HMEC	breast

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