Variant report

Variant	nsv462095
Chromosome Location	chr1:77903611-77951460
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:77948475..77951287-chr1:77952444..77954143,2	K562	blood:
2	chr1:77925586..77927133-chr1:77930650..77932408,2	K562	blood:
3	chr1:77930945..77932536-chr1:77935599..77937713,2	K562	blood:
4	chr1:77915846..77918627-chr1:77942564..77944973,2	K562	blood:
5	chr1:77921275..77923529-chr1:77924808..77927657,2	K562	blood:
6	chr1:77921085..77922775-chr1:77926149..77927657,2	K562	blood:
7	chr1:77931036..77935396-chr1:77935652..77939462,4	K562	blood:
8	chr1:77930945..77932536-chr1:77935599..77937713,2	K562	blood:
9	chr1:77931036..77935396-chr1:77935652..77939462,4	K562	blood:
10	chr1:77922521..77925013-chr1:77930694..77933146,2	K562	blood:
11	chr1:77922521..77925013-chr1:77930694..77933146,2	K562	blood:
12	chr1:77921275..77923529-chr1:77924808..77927657,2	K562	blood:
13	chr1:77921085..77922775-chr1:77926149..77927657,2	K562	blood:
14	chr1:77925586..77927133-chr1:77930650..77932408,2	K562	blood:
15	chr1:77915846..77918627-chr1:77942564..77944973,2	K562	blood:

No data

Extended variants
information (count: 1765 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12034899	chr1:77903611-77903612	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535306822	chr1:77903634-77903635	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188083649	chr1:77903685-77903686	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572336638	chr1:77903711-77903712	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs370935279	chr1:77903774-77903775	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545802687	chr1:77903795-77903796	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs7545638	chr1:77903816-77903817	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs57412768	chr1:77903925-77903926	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376309754	chr1:77903930-77903931	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs3112828	chr1:77903996-77903997	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371915594	chr1:77904002-77904003	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6603948	chr1:77904004-77904005	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56019139	chr1:77904006-77904007	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530188566	chr1:77904010-77904011	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149355360	chr1:77904033-77904034	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34396257	chr1:77904103-77904104	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373460700	chr1:77904148-77904149	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563008541	chr1:77904157-77904158	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530199754	chr1:77904252-77904253	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372401768	chr1:77904255-77904256	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144711230	chr1:77904267-77904268	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180939475	chr1:77904320-77904321	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527850332	chr1:77904394-77904395	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11583934	chr1:77904435-77904436	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12407481	chr1:77904451-77904452	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537496636	chr1:77904471-77904472	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs549357058	chr1:77904472-77904473	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs72681655	chr1:77904625-77904626	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138323104	chr1:77904628-77904629	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553805031	chr1:77904668-77904669	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565753342	chr1:77904702-77904703	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376737980	chr1:77904704-77904705	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs142901984	chr1:77904709-77904710	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs199683822	chr1:77904722-77904723	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs576393195	chr1:77904757-77904758	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs370896371	chr1:77904761-77904762	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs544648807	chr1:77904770-77904771	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146240715	chr1:77904829-77904830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7532803	chr1:77904845-77904846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541973402	chr1:77904903-77904904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577088145	chr1:77904920-77904921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560592051	chr1:77904923-77904924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369302923	chr1:77904933-77904934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527882861	chr1:77904934-77904935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139340136	chr1:77904937-77904938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564481291	chr1:77904939-77904940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4317858	chr1:77904943-77904944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545743428	chr1:77904956-77904957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549397264	chr1:77905024-77905025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567743320	chr1:77905057-77905058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77894200-77905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:77900200-77913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:77900800-77904800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:77901200-77904200	Enhancers	Primary T cells from cord blood	blood
8	chr1:77901400-77903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:77901400-77904200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:77901400-77904200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:77902200-77904000	Enhancers	NHDF-Ad	bronchial
12	chr1:77902400-77903800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:77902400-77904000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:77902400-77904200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:77902600-77903800	Enhancers	Brain Angular Gyrus	brain
16	chr1:77902600-77903800	Enhancers	Osteobl	bone
17	chr1:77902600-77904000	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:77902600-77904200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:77902600-77904400	Active TSS	NHLF	lung
20	chr1:77902800-77904200	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:77902800-77904400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:77903000-77903800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:77903000-77904000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:77903000-77904200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:77903200-77903800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:77903200-77903800	Enhancers	HUVEC	blood vessel
27	chr1:77903200-77904400	Enhancers	Colon Smooth Muscle	Colon
28	chr1:77903200-77904400	Enhancers	Stomach Mucosa	stomach
29	chr1:77903200-77904600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:77903200-77904600	Enhancers	HSMM	muscle
31	chr1:77903400-77903800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:77903400-77904000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:77903400-77904000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:77903400-77904000	Enhancers	A549	lung
35	chr1:77903400-77904200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:77903600-77903800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:77903600-77904000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:77903600-77904000	Enhancers	Adipose Nuclei	Adipose
39	chr1:77903600-77904000	Weak transcription	HSMMtube	muscle
40	chr1:77903600-77904400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:77903600-77904600	Enhancers	Brain Hippocampus Middle	brain
42	chr1:77903800-77904000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:77903800-77904000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:77903800-77904000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:77903800-77904200	Active TSS	Osteobl	bone
46	chr1:77903800-77904600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:77904000-77904200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:77904000-77904200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr1:77904000-77904400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:77904000-77904400	Active TSS	Ovary	ovary

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