Variant report

Variant	nsv508293
Chromosome Location	chr1:75491417-75541615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75518613..75519113-chr1:75669204..75670089,2	MCF-7	breast:
2	chr1:75537889..75539859-chr1:75541751..75543323,2	K562	blood:
3	chr1:75326986..75328517-chr1:75488732..75491461,2	K562	blood:
4	chr1:41368816..41369379-chr1:75534040..75534735,2	MCF-7	breast:
5	chr1:75518611..75519552-chr1:75668831..75670164,13	MCF-7	breast:

Extended variants
information (count: 345 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538733518	chr1:75505618-75505619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369431849	chr1:75505624-75505625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567954403	chr1:75505625-75505626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372913618	chr1:75505633-75505634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569488905	chr1:75505681-75505682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs188128	chr1:75505704-75505705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376037248	chr1:75505712-75505713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs143425352	chr1:75505729-75505730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189966545	chr1:75505743-75505744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147979007	chr1:75505762-75505763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs534962491	chr1:75505764-75505765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs552684100	chr1:75505766-75505767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs577600644	chr1:75505816-75505817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536213363	chr1:75505852-75505853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141812560	chr1:75505856-75505857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563388569	chr1:75505870-75505871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182936095	chr1:75505877-75505878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376058276	chr1:75505906-75505907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561577459	chr1:75505907-75505908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111831643	chr1:75505909-75505910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373045726	chr1:75505916-75505917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565114999	chr1:75505942-75505943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532395130	chr1:75505976-75505977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550624209	chr1:75505980-75505981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569016837	chr1:75506028-75506029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373521027	chr1:75506042-75506043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576578304	chr1:75506043-75506044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs533845106	chr1:75506062-75506063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs527857534	chr1:75506117-75506118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs548900339	chr1:75506132-75506133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369132951	chr1:75506134-75506135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567492979	chr1:75506159-75506160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187440394	chr1:75506235-75506236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553259731	chr1:75506246-75506247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571233816	chr1:75506249-75506250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553325111	chr1:75506288-75506289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377073378	chr1:75506304-75506305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190994747	chr1:75506320-75506321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575408544	chr1:75506338-75506339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184085976	chr1:75506349-75506350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs554851326	chr1:75506374-75506375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138705186	chr1:75506383-75506384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369896612	chr1:75516518-75516519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539911271	chr1:75516524-75516525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142692353	chr1:75516528-75516529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558296995	chr1:75516539-75516540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368518307	chr1:75516548-75516549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201815557	chr1:75516579-75516580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77528848	chr1:75516584-75516585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75675665	chr1:75516585-75516586	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75505600-75506400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:75516400-75517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:75533200-75534000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:75533400-75534000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:75533800-75534400	ZNF genes & repeats	Esophagus	oesophagus
6	chr1:75534000-75539400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:75537200-75537400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:75537600-75539000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:75538800-75540200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:75538800-75540200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:75539000-75539600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:75539000-75540800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:75539200-75539400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:75539200-75540200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:75539200-75541000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:75539200-75541400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:75539400-75539600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:75539400-75540600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:75539400-75541800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:75539600-75540800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:75539600-75545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:75540000-75540200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:75540200-75540800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:75540200-75541000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:75540200-75541200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:75540200-75541400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:75540200-75541400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:75540600-75541000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:75540600-75541000	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:75540600-75541200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:75540600-75541200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:75540600-75541400	Enhancers	Fetal Brain Female	brain
33	chr1:75540600-75541600	Enhancers	Brain Germinal Matrix	brain
34	chr1:75540800-75541200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr1:75540800-75541200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:75540800-75541200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:75540800-75541200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:75541000-75541200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:75541000-75541400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:75541000-75541400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:75541000-75541400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr1:75541200-75541400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:75541200-75541400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:75541200-75542400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:75541200-75545000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:75541200-75545400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:75541200-75546000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:75541400-75541800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:75541400-75543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:75541400-75543600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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