Variant report

Variant	nsv521371
Chromosome Location	chr1:77899640-77912969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77898654..77900844-chr1:77900858..77902632,2	K562	blood:
2	chr1:77898654..77900844-chr1:77900858..77902632,2	K562	blood:

Extended variants
information (count: 504 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12093881	chr1:77899640-77899641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538325460	chr1:77899649-77899650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2088517	chr1:77899659-77899660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528112414	chr1:77899663-77899664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76876117	chr1:77899667-77899668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551041641	chr1:77899684-77899685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376145803	chr1:77899731-77899732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549115502	chr1:77899738-77899739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150433518	chr1:77899793-77899794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12037071	chr1:77899794-77899795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561165861	chr1:77899834-77899835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201761700	chr1:77899837-77899838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546773086	chr1:77899866-77899867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187060291	chr1:77899914-77899915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192346991	chr1:77899948-77899949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550571717	chr1:77899959-77899960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139408597	chr1:77899996-77899997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537005459	chr1:77900019-77900020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555441927	chr1:77900039-77900040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2803150	chr1:77900050-77900051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76973003	chr1:77900058-77900059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74447431	chr1:77900104-77900105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371412826	chr1:77900108-77900109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578206606	chr1:77900131-77900132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12031867	chr1:77900175-77900176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569752567	chr1:77900213-77900214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs72681642	chr1:77900266-77900267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575321540	chr1:77900271-77900272	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552438961	chr1:77900330-77900331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542598151	chr1:77900358-77900359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566156370	chr1:77900390-77900391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561015873	chr1:77900395-77900396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528187178	chr1:77900428-77900429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs55924989	chr1:77900448-77900449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539691383	chr1:77900454-77900455	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555164775	chr1:77900482-77900483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs72681644	chr1:77900488-77900489	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79839192	chr1:77900496-77900497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1498403	chr1:77900539-77900540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114270806	chr1:77900592-77900593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144884278	chr1:77900625-77900626	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557662964	chr1:77900792-77900793	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548956391	chr1:77900808-77900809	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs576150474	chr1:77900826-77900827	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535094315	chr1:77900872-77900873	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182366946	chr1:77900886-77900887	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187863122	chr1:77900893-77900894	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544977534	chr1:77900910-77900911	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149040358	chr1:77900917-77900918	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142099129	chr1:77901097-77901098	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	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:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77893800-77902600	Weak transcription	Osteobl	bone
3	chr1:77893800-77903600	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:77894200-77905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:77895200-77901400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:77895400-77902000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:77897000-77903400	Weak transcription	HSMMtube	muscle
10	chr1:77897200-77900600	Weak transcription	HSMM	muscle
11	chr1:77897200-77901800	Weak transcription	NHLF	lung
12	chr1:77897400-77901600	Weak transcription	NHDF-Ad	bronchial
13	chr1:77897400-77903000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:77897600-77900400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:77897600-77900400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:77897600-77902400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:77897600-77902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:77897800-77900000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:77897800-77900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:77897800-77900200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:77897800-77900800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:77897800-77903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:77898000-77900000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:77898000-77900600	Enhancers	Primary T cells from cord blood	blood
25	chr1:77898800-77900000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:77898800-77900600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:77898800-77900800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:77898800-77900800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:77899200-77900400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:77899200-77903400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:77899400-77900400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:77899600-77900000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr1:77900000-77900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:77900000-77901400	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:77900000-77901400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:77900000-77901400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:77900000-77902000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:77900200-77901000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:77900200-77913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:77900400-77900800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:77900400-77900800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:77900400-77900800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:77900400-77901400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:77900600-77901000	Enhancers	Primary B cells from cord blood	blood
45	chr1:77900600-77901000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:77900600-77901000	ZNF genes & repeats	HSMM	muscle
47	chr1:77900600-77901200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr1:77900600-77901200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:77900800-77901200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:77900800-77901200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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