Variant report

Variant	nsv1499
Chromosome Location	chr1:76704981-76749688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76741346..76744130-chr1:76749152..76752097,2	K562	blood:
2	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:
3	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:
4	chr1:76741346..76744130-chr1:76749152..76752097,2	K562	blood:
5	chr1:76739718..76741247-chr1:76741551..76743104,2	K562	blood:
6	chr1:76739718..76741247-chr1:76741551..76743104,2	K562	blood:

Extended variants
information (count: 1566 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1566 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141509354	chr1:76705027-76705028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72675941	chr1:76705041-76705042	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146522194	chr1:76705085-76705086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560107252	chr1:76705109-76705110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549622952	chr1:76705128-76705129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376047903	chr1:76705141-76705142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183602650	chr1:76705143-76705144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573834345	chr1:76705191-76705192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554469298	chr1:76705201-76705202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2783987	chr1:76705203-76705204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72998532	chr1:76705238-76705239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116445380	chr1:76705251-76705252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115820636	chr1:76705252-76705253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543858570	chr1:76705258-76705259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562064087	chr1:76705260-76705261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573665360	chr1:76705263-76705264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12565106	chr1:76705288-76705289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141765888	chr1:76705357-76705358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559994270	chr1:76705362-76705363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527628428	chr1:76705363-76705364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150563205	chr1:76705399-76705400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114284430	chr1:76705412-76705413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531411941	chr1:76705443-76705444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549816241	chr1:76705477-76705478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552807988	chr1:76705496-76705497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72998535	chr1:76705542-76705543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547443221	chr1:76705593-76705594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566372702	chr1:76705672-76705673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74817392	chr1:76705681-76705682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188100613	chr1:76705693-76705694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75127256	chr1:76705694-76705695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372100948	chr1:76705704-76705705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558175612	chr1:76705750-76705751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17098471	chr1:76705756-76705757	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373229997	chr1:76705773-76705774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538421762	chr1:76705813-76705814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573826173	chr1:76705819-76705820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541024494	chr1:76705836-76705837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552992281	chr1:76705866-76705867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567088860	chr1:76705899-76705900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562765916	chr1:76705908-76705909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34260756	chr1:76705959-76705960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149809527	chr1:76705995-76705996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546034558	chr1:76706144-76706145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192959971	chr1:76706217-76706218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531496375	chr1:76706278-76706279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543284508	chr1:76706309-76706310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147477433	chr1:76706312-76706313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139945717	chr1:76706343-76706344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547406581	chr1:76706376-76706377	Enhancers Weak transcription	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76694600-76705000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76695600-76705000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:76695600-76708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76697000-76708200	Weak transcription	Fetal Lung	lung
5	chr1:76702800-76705600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:76702800-76706400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:76703000-76705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:76703000-76706200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:76703200-76706400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:76703200-76707000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:76703400-76705600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:76703400-76706200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:76703400-76706400	Enhancers	Hela-S3	cervix
14	chr1:76703600-76705000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:76703600-76705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:76703600-76705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:76703800-76705000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:76703800-76705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:76703800-76706200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:76703800-76707000	Enhancers	Brain Substantia Nigra	brain
21	chr1:76704000-76705600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:76704200-76705000	Enhancers	Brain Anterior Caudate	brain
23	chr1:76704200-76706600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:76704400-76705200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:76704400-76705200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:76704400-76705800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:76704400-76706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:76704600-76706400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:76704600-76706400	Enhancers	Fetal Thymus	thymus
30	chr1:76704800-76705000	Enhancers	HUVEC	blood vessel
31	chr1:76704800-76705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:76705000-76706400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr1:76705000-76706400	Weak transcription	Brain Anterior Caudate	brain
34	chr1:76705000-76706600	Enhancers	Primary B cells from cord blood	blood
35	chr1:76705000-76707200	Weak transcription	HUVEC	blood vessel
36	chr1:76705000-76712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:76705200-76705600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:76705200-76706400	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:76705200-76706600	Enhancers	Brain Hippocampus Middle	brain
40	chr1:76705200-76707200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:76705400-76707400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:76705400-76707800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:76705600-76706400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:76705600-76706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:76705600-76706400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:76705600-76712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:76705600-76712800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:76706000-76706400	Enhancers	Fetal Heart	heart
49	chr1:76706200-76706400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:76706200-76706400	Enhancers	Sigmoid Colon	Sigmoid Colon

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