Variant report

Variant	nsv947114
Chromosome Location	chr1:74606492-74612232
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	chr1:74610872..74613542-chr1:74663622..74665411,2	K562	blood:

Variant related genes	Relation type
ENSG00000162620	chromatin interactions
ENSG00000254685	chromatin interactions
ENSG00000116783	chromatin interactions
ENSG00000259030	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538871058	chr1:74610604-74610605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1856789	chr1:74610686-74610687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs536501616	chr1:74610696-74610697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565493848	chr1:74610698-74610699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554681906	chr1:74610702-74610703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4557914	chr1:74610703-74610704	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540402204	chr1:74610704-74610705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182836170	chr1:74610711-74610712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113295604	chr1:74610723-74610724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532609782	chr1:74610775-74610776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544400994	chr1:74610780-74610781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142379506	chr1:74610782-74610783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530333271	chr1:74610784-74610785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111866378	chr1:74610805-74610806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143389693	chr1:74610884-74610885	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs187738652	chr1:74610889-74610890	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs74887226	chr1:74610896-74610897	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs148366515	chr1:74610924-74610925	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs536628258	chr1:74610961-74610962	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs140605781	chr1:74610993-74610994	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs374817525	chr1:74611053-74611054	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs557195986	chr1:74611061-74611062	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs368941841	chr1:74611076-74611077	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs150448604	chr1:74611080-74611081	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs373999821	chr1:74611167-74611168	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs537761517	chr1:74611212-74611213	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs150476223	chr1:74611215-74611216	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs111307114	chr1:74611216-74611217	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565866546	chr1:74611218-74611219	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs557418677	chr1:74611284-74611285	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs138441750	chr1:74611328-74611329	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs1032084	chr1:74611350-74611351	Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191041677	chr1:74611374-74611375	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113418436	chr1:74611416-74611417	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs183738629	chr1:74611450-74611451	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs61261131	chr1:74611460-74611461	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs576929867	chr1:74611506-74611507	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs544262373	chr1:74611517-74611518	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs141612137	chr1:74611577-74611578	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs187958331	chr1:74611664-74611665	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs542184359	chr1:74611749-74611750	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192100415	chr1:74611780-74611781	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs545640808	chr1:74611889-74611890	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs546571668	chr1:74611900-74611901	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs564821752	chr1:74611902-74611903	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs112390917	chr1:74611952-74611953	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs137878017	chr1:74611990-74611991	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs184652086	chr1:74611993-74611994	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs187175297	chr1:74611994-74611995	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs11589619	chr1:74612000-74612001	Inactive region	Chromatin interactive region	4 gene(s)	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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74610600-74611000	Enhancers	Brain Substantia Nigra	brain
2	chr1:74610800-74611200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:74610800-74611200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:74610800-74611200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:74610800-74611200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:74610800-74611200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:74610800-74611200	Enhancers	Brain Anterior Caudate	brain
8	chr1:74610800-74611400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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