Variant report

Variant	nsv1488
Chromosome Location	chr1:76587622-76632635
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76584811..76587020-chr1:76588977..76591542,2	K562	blood:
2	chr1:76456960..76457802-chr1:76619597..76620478,2	K562	blood:
3	chr1:76456960..76458188-chr1:76619791..76620471,4	MCF-7	breast:
4	chr1:76374124..76374771-chr1:76619576..76620091,2	MCF-7	breast:
5	chr1:76619661..76620511-chr1:77549962..77550737,2	MCF-7	breast:
6	chr1:76596952..76598504-chr1:76616645..76619490,2	K562	blood:
7	chr1:76590552..76592977-chr1:76595661..76598388,2	K562	blood:
8	chr1:76619950..76620589-chr1:78579803..78580325,2	K562	blood:
9	chr1:76619537..76620481-chr1:77608892..77609886,3	K562	blood:
10	chr1:76620098..76620620-chr1:76796654..76797328,2	MCF-7	breast:
11	chr1:76619553..76620451-chr1:77999109..77999974,2	K562	blood:
12	chr1:76596952..76598504-chr1:76616645..76619490,2	K562	blood:
13	chr1:76619799..76620863-chr1:77591812..77592540,5	K562	blood:
14	chr1:76590552..76592977-chr1:76595661..76598388,2	K562	blood:
15	chr1:76619528..76620590-chr1:77591988..77592713,3	MCF-7	breast:
16	chr1:76456932..76457512-chr1:76605708..76606546,2	MCF-7	breast:

No data

Extended variants
information (count: 1724 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1724 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149326416	chr1:76587773-76587774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550296922	chr1:76587788-76587789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568493938	chr1:76587813-76587814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147418843	chr1:76587823-76587824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547800819	chr1:76587849-76587850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567113065	chr1:76587861-76587862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143618182	chr1:76587867-76587868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559104607	chr1:76587891-76587892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181875527	chr1:76587939-76587940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377682431	chr1:76587982-76587983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575777571	chr1:76587986-76587987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556722117	chr1:76587994-76587995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72992611	chr1:76587995-76587996	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147280311	chr1:76588010-76588011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148749986	chr1:76588019-76588020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56160304	chr1:76588034-76588035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540203226	chr1:76588068-76588069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17609927	chr1:76588080-76588081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532236606	chr1:76588084-76588085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72674437	chr1:76588106-76588107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs386632548	chr1:76588130-76588131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2783661	chr1:76588131-76588132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201343612	chr1:76588133-76588134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373991343	chr1:76588162-76588163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547738058	chr1:76588220-76588221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185803625	chr1:76588221-76588222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534499103	chr1:76588228-76588229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552627151	chr1:76588298-76588299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571001655	chr1:76588309-76588310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142310336	chr1:76588321-76588322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35300914	chr1:76588359-76588360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569205183	chr1:76588365-76588366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11162083	chr1:76588369-76588370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150827328	chr1:76588381-76588382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554203427	chr1:76588385-76588386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117165932	chr1:76588407-76588408	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540500144	chr1:76588429-76588430	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188646275	chr1:76588459-76588460	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113842934	chr1:76588473-76588474	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116657945	chr1:76588484-76588485	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562347045	chr1:76588490-76588491	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529737761	chr1:76588522-76588523	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1335738	chr1:76588532-76588533	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373386681	chr1:76588542-76588543	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139229757	chr1:76588551-76588552	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527315232	chr1:76588605-76588606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185320942	chr1:76588615-76588616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116397690	chr1:76588749-76588750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144561409	chr1:76588780-76588781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571488840	chr1:76588838-76588839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:76575400-76606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:76576400-76591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:76577000-76590800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:76579400-76590800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:76579800-76590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:76581800-76596200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:76583400-76590200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:76583600-76589800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:76585800-76588600	Enhancers	Fetal Heart	heart
13	chr1:76586000-76588000	Weak transcription	Psoas Muscle	Psoas
14	chr1:76586200-76587800	Enhancers	Right Atrium	heart
15	chr1:76586400-76588400	Enhancers	Fetal Lung	lung
16	chr1:76586400-76590000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:76586800-76588000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:76587000-76588200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:76587000-76588200	Enhancers	Left Ventricle	heart
20	chr1:76587000-76588400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:76587000-76588600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:76587000-76590200	Enhancers	Lung	lung
23	chr1:76587200-76590800	Weak transcription	Brain Anterior Caudate	brain
24	chr1:76587600-76587800	Enhancers	Fetal Kidney	kidney
25	chr1:76587600-76587800	Enhancers	Gastric	stomach
26	chr1:76587600-76587800	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:76587600-76588000	Enhancers	Colon Smooth Muscle	Colon
28	chr1:76587600-76588000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:76587600-76588200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:76587600-76588400	Enhancers	Right Ventricle	heart
31	chr1:76587600-76589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:76587800-76588000	Enhancers	Aorta	Aorta
33	chr1:76587800-76590200	Weak transcription	Fetal Kidney	kidney
34	chr1:76587800-76591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:76587800-76592400	Weak transcription	Gastric	stomach
36	chr1:76587800-76593400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:76587800-76602800	Weak transcription	Right Atrium	heart
38	chr1:76588000-76588400	Weak transcription	Aorta	Aorta
39	chr1:76588000-76588400	Enhancers	Psoas Muscle	Psoas
40	chr1:76588000-76589200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:76588200-76589000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
43	chr1:76588400-76588600	ZNF genes & repeats	Aorta	Aorta
44	chr1:76588400-76591000	Weak transcription	Fetal Lung	lung
45	chr1:76588400-76594200	Weak transcription	Right Ventricle	heart
46	chr1:76588600-76594200	Weak transcription	Aorta	Aorta
47	chr1:76589000-76590000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:76589200-76590000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:76589800-76590000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:76589800-76590000	Enhancers	Brain Cingulate Gyrus	brain

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