Variant report

Variant	nsv997508
Chromosome Location	chr1:75709664-75748920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75731104..75731714-chr1:76048302..76048818,2	K562	blood:
2	chr1:75730735..75733136-chr1:75734426..75736968,2	K562	blood:
3	chr1:75730735..75733136-chr1:75734426..75736968,2	K562	blood:
4	chr1:75731173..75731698-chr1:76097693..76098339,2	MCF-7	breast:

Extended variants
information (count: 1069 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565197659	chr1:75709730-75709731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565344849	chr1:75709755-75709756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532648448	chr1:75709771-75709772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551241046	chr1:75709833-75709834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377578545	chr1:75709855-75709856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139214393	chr1:75709875-75709876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533736441	chr1:75709893-75709894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs665545	chr1:75709909-75709910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs665575	chr1:75709929-75709930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149531904	chr1:75709949-75709950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552562489	chr1:75709955-75709956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571211245	chr1:75710029-75710030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565841228	chr1:75710035-75710036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538775443	chr1:75710049-75710050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534978665	chr1:75710061-75710062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs666397	chr1:75710064-75710065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6685905	chr1:75710066-75710067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182593079	chr1:75710107-75710108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555275304	chr1:75710163-75710164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144056778	chr1:75710165-75710166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540592825	chr1:75710231-75710232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188001489	chr1:75710282-75710283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532495398	chr1:75710460-75710461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148657438	chr1:75710516-75710517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78528206	chr1:75710589-75710590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530644566	chr1:75710602-75710603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548786119	chr1:75710636-75710637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567185607	chr1:75710686-75710687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112858144	chr1:75710818-75710819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144727393	chr1:75710841-75710842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192191494	chr1:75710876-75710877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147473403	chr1:75710878-75710879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571264721	chr1:75710897-75710898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538341555	chr1:75711012-75711013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376995657	chr1:75711017-75711018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550680300	chr1:75711047-75711048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568881984	chr1:75711093-75711094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184130765	chr1:75711155-75711156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74938732	chr1:75711172-75711173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114961819	chr1:75711175-75711176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534544448	chr1:75711187-75711188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558670737	chr1:75711193-75711194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577201134	chr1:75711216-75711217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369514229	chr1:75711218-75711219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188593647	chr1:75711224-75711225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193165185	chr1:75711225-75711226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147662167	chr1:75711229-75711230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574607087	chr1:75711328-75711329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184481512	chr1:75711408-75711409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188931631	chr1:75711436-75711437	Enhancers Weak transcription	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	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75701200-75715800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:75703400-75710800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:75710600-75711000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:75710600-75714600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:75710800-75711800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:75711800-75712400	Enhancers	Brain Germinal Matrix	brain
7	chr1:75711800-75718800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:75715800-75716400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:75716400-75723800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:75718400-75720400	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:75720400-75726200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:75723200-75723400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:75726200-75727800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:75730600-75732200	Enhancers	HepG2	liver
15	chr1:75731600-75731800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:75731600-75732000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:75731800-75732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:75732800-75737200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:75735800-75736000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:75736400-75738400	Weak transcription	Fetal Brain Female	brain
21	chr1:75737200-75737800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:75737400-75737600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:75737600-75738600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:75737800-75743000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:75738400-75740800	Enhancers	K562	blood
26	chr1:75738600-75739200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:75739200-75741800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:75739800-75742400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:75741000-75741800	Enhancers	NH-A	brain
30	chr1:75741400-75741800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:75741800-75742000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:75741800-75742000	Flanking Active TSS	NH-A	brain
33	chr1:75742000-75742400	Active TSS	NH-A	brain
34	chr1:75742000-75742600	Enhancers	NHEK	skin
35	chr1:75742400-75742600	Flanking Active TSS	NH-A	brain
36	chr1:75742400-75742800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:75743000-75743200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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