Variant report

Variant	nsv871605
Chromosome Location	chr1:77889505-77918347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:77884906..77887618-chr1:77887940..77890792,2	K562	blood:
2	chr1:77915846..77918627-chr1:77942564..77944973,2	K562	blood:
3	chr1:77898654..77900844-chr1:77900858..77902632,2	K562	blood:
4	chr1:77898654..77900844-chr1:77900858..77902632,2	K562	blood:
5	chr1:77897440..77899362-chr1:78468491..78471340,2	K562	blood:

Variant related genes	Relation type
ENSG00000273338	chromatin interactions
ENSG00000162616	chromatin interactions
ENSG00000251767	chromatin interactions

Extended variants
information (count: 1091 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2647514	chr1:77889505-77889506	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552077997	chr1:77889509-77889510	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72681620	chr1:77889513-77889514	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35473006	chr1:77889514-77889515	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397709358	chr1:77889524-77889525	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554094766	chr1:77889546-77889547	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550905609	chr1:77889608-77889609	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368578166	chr1:77889649-77889650	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138548840	chr1:77889675-77889676	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565604030	chr1:77889699-77889700	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72681621	chr1:77889761-77889762	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141622317	chr1:77889762-77889763	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs80268497	chr1:77889820-77889821	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542682710	chr1:77889824-77889825	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562756174	chr1:77889841-77889842	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559300356	chr1:77889848-77889849	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146222577	chr1:77889862-77889863	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544269963	chr1:77889912-77889913	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138393644	chr1:77889917-77889918	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574485902	chr1:77889929-77889930	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141953324	chr1:77889945-77889946	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559966497	chr1:77889946-77889947	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527500512	chr1:77890014-77890015	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2803143	chr1:77890022-77890023	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564043231	chr1:77890041-77890042	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531499593	chr1:77890080-77890081	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550732364	chr1:77890134-77890135	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569212869	chr1:77890143-77890144	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2647515	chr1:77890207-77890208	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548677806	chr1:77890211-77890212	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372730263	chr1:77890221-77890222	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375130401	chr1:77890222-77890223	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116007496	chr1:77890230-77890231	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558311341	chr1:77890262-77890263	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111450674	chr1:77890344-77890345	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2647516	chr1:77890421-77890422	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559190120	chr1:77890454-77890455	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs180709216	chr1:77890491-77890492	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538517018	chr1:77890499-77890500	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555916991	chr1:77890579-77890580	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574397280	chr1:77890628-77890629	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111408507	chr1:77890638-77890639	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2647517	chr1:77890654-77890655	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559825218	chr1:77890709-77890710	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571762156	chr1:77890713-77890714	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577758406	chr1:77890723-77890724	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185331297	chr1:77890732-77890733	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191219562	chr1:77890733-77890734	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2803142	chr1:77890734-77890735	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139990845	chr1:77890739-77890740	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77893400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77883000-77889800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:77884400-77890400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:77884600-77889600	Weak transcription	Osteobl	bone
6	chr1:77884800-77890600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:77885400-77890600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:77887200-77890200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:77887600-77890000	Weak transcription	Aorta	Aorta
10	chr1:77888000-77889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:77888000-77889600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:77888000-77893600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:77888000-77897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:77888200-77893400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:77888400-77889600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:77888400-77889800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:77888400-77890000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:77888400-77890000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:77888400-77891600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:77888400-77892000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:77888400-77893600	Weak transcription	Brain Angular Gyrus	brain
22	chr1:77888600-77889600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:77888800-77892000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:77889000-77890200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:77889000-77890400	Enhancers	HSMMtube	muscle
26	chr1:77889000-77890600	Enhancers	NHLF	lung
27	chr1:77889000-77890800	Enhancers	NHDF-Ad	bronchial
28	chr1:77889200-77889600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:77889200-77889800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:77889200-77890800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:77889200-77892000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:77889400-77890200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:77889400-77890400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:77889400-77890600	Enhancers	HSMM	muscle
35	chr1:77889600-77889800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:77889600-77890000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:77889600-77890000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:77889600-77890000	Enhancers	Brain Hippocampus Middle	brain
39	chr1:77889600-77890400	Enhancers	Osteobl	bone
40	chr1:77889600-77890600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:77889800-77890000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:77889800-77890000	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:77889800-77890600	Enhancers	HMEC	breast
44	chr1:77889800-77893600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:77890000-77890200	Enhancers	Aorta	Aorta
46	chr1:77890000-77890200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr1:77890000-77890400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:77890000-77890400	Enhancers	HUVEC	blood vessel
49	chr1:77890000-77890600	Enhancers	Brain Substantia Nigra	brain
50	chr1:77890000-77890600	Enhancers	NHEK	skin

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