Variant report

Variant	nsv945870
Chromosome Location	chr1:73103714-73109803
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	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:
2	chr1:73101646..73104489-chr1:73107519..73109792,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556725997	chr1:73103715-73103716	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10889968	chr1:73103734-73103735	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537849906	chr1:73103735-73103736	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545122151	chr1:73103781-73103782	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs151166970	chr1:73103785-73103786	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77333787	chr1:73103822-73103823	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs371458837	chr1:73103832-73103833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371998871	chr1:73103834-73103835	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546123265	chr1:73103841-73103842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553129393	chr1:73103855-73103856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141239501	chr1:73103863-73103864	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541950891	chr1:73103866-73103867	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562223279	chr1:73103867-73103868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4650145	chr1:73103939-73103940	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs544617786	chr1:73103945-73103946	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs57409797	chr1:73103962-73103963	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs397758520	chr1:73103968-73103969	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146919322	chr1:73104020-73104021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs11209993	chr1:73104061-73104062	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546960394	chr1:73104096-73104097	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566658779	chr1:73104138-73104139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531641300	chr1:73104143-73104144	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs147568894	chr1:73104147-73104148	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12024784	chr1:73104160-73104161	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs553709423	chr1:73104213-73104214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537408323	chr1:73104257-73104258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567464420	chr1:73104278-73104279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186422704	chr1:73104311-73104312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570939475	chr1:73104345-73104346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539740809	chr1:73104350-73104351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553292977	chr1:73104399-73104400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573318916	chr1:73104403-73104404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191317312	chr1:73104411-73104412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536015219	chr1:73104438-73104439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180716067	chr1:73104492-73104493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142239491	chr1:73104534-73104535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150163408	chr1:73104537-73104538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564467409	chr1:73104548-73104549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578098633	chr1:73104550-73104551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12028336	chr1:73104661-73104662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10889969	chr1:73104714-73104715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529049007	chr1:73104740-73104741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185156818	chr1:73104798-73104799	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73100200-73104200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:73102400-73104000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:73102600-73104000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:73102600-73104400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:73103000-73104000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:73103000-73104200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:73103000-73104400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:73103200-73103800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:73103200-73104000	Enhancers	Brain Germinal Matrix	brain
10	chr1:73103400-73104000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:73103400-73104000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:73103600-73104200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:73104000-73104400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:73104200-73104800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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