Variant report

Variant	nsv518927
Chromosome Location	chr1:76573614-76586272
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	chr1:76584811..76587020-chr1:76588977..76591542,2	K562	blood:

Extended variants
information (count: 500 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs447383	chr1:76573614-76573615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534870333	chr1:76573625-76573626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554902296	chr1:76573677-76573678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375062056	chr1:76573678-76573679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369068927	chr1:76573688-76573689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111893748	chr1:76573734-76573735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs384233	chr1:76573739-76573740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs409245	chr1:76573769-76573770	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557642039	chr1:76573770-76573771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571428392	chr1:76573813-76573814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367788061	chr1:76573818-76573819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538854278	chr1:76573864-76573865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs384639	chr1:76573883-76573884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs441806	chr1:76573898-76573899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34074311	chr1:76573899-76573900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536384540	chr1:76573907-76573908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554263171	chr1:76573948-76573949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558662867	chr1:76573962-76573963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574054118	chr1:76574004-76574005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572798230	chr1:76574005-76574006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373509928	chr1:76574011-76574012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114210082	chr1:76574038-76574039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565251848	chr1:76574049-76574050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144018923	chr1:76574054-76574055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544377087	chr1:76574078-76574079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563132516	chr1:76574108-76574109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144349056	chr1:76574116-76574117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185882538	chr1:76574189-76574190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148341867	chr1:76574194-76574195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192403271	chr1:76574276-76574277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57217665	chr1:76574295-76574296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181978076	chr1:76574300-76574301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111725629	chr1:76574325-76574326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141686781	chr1:76574346-76574347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569078501	chr1:76574405-76574406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535918058	chr1:76574409-76574410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554656763	chr1:76574416-76574417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369193264	chr1:76574546-76574547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201717912	chr1:76574547-76574548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10528375	chr1:76574563-76574564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57079033	chr1:76574577-76574578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572714507	chr1:76574578-76574579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538040303	chr1:76574581-76574582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74594517	chr1:76574752-76574753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150523415	chr1:76574821-76574822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139834853	chr1:76574850-76574851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78042866	chr1:76574863-76574864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2783659	chr1:76574866-76574867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574980879	chr1:76574948-76574949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186332270	chr1:76574956-76574957	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:76569400-76575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:76570200-76573800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:76570800-76574200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:76571000-76573800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:76571200-76575000	Weak transcription	Left Ventricle	heart
9	chr1:76571200-76575200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:76571200-76575400	Weak transcription	Fetal Lung	lung
11	chr1:76571800-76574200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:76571800-76575000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:76572000-76574000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:76572000-76574200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:76572200-76575000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:76572200-76575200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:76572200-76577000	Enhancers	Brain Substantia Nigra	brain
18	chr1:76572800-76574000	Weak transcription	Brain Anterior Caudate	brain
19	chr1:76572800-76575000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:76572800-76575600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:76573000-76575000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:76573200-76573800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:76573400-76575600	Enhancers	Fetal Kidney	kidney
24	chr1:76573400-76576400	Enhancers	Brain Angular Gyrus	brain
25	chr1:76573600-76574200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:76573600-76574200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:76573600-76575000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:76573600-76575000	Enhancers	Brain Hippocampus Middle	brain
29	chr1:76573800-76574400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:76573800-76575000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:76574000-76574200	Enhancers	Adipose Nuclei	Adipose
32	chr1:76574000-76575000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:76574000-76576800	Enhancers	Brain Anterior Caudate	brain
34	chr1:76574200-76574400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:76574200-76574800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:76574200-76575000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:76574200-76575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:76574200-76575200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:76574800-76576400	Enhancers	Adipose Nuclei	Adipose
40	chr1:76575000-76575400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:76575000-76575400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr1:76575000-76575400	Enhancers	Left Ventricle	heart
43	chr1:76575000-76575400	Enhancers	Right Ventricle	heart
44	chr1:76575000-76575600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:76575000-76576000	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:76575000-76576000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:76575000-76576600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:76575000-76577000	Enhancers	Primary B cells from peripheral blood	blood
49	chr1:76575200-76575400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:76575200-76575400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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