Variant report

Variant	nsv508271
Chromosome Location	chr1:69522722-69547369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 648 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:648 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549374812	chr1:69522819-69522820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190228666	chr1:69522833-69522834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538968446	chr1:69522865-69522866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552476914	chr1:69522917-69522918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568262496	chr1:69522922-69522923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566245651	chr1:69522928-69522929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138874574	chr1:69522956-69522957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12096838	chr1:69523028-69523029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10736411	chr1:69523144-69523145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs565779037	chr1:69523156-69523157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537409141	chr1:69523197-69523198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557416157	chr1:69523302-69523303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369390452	chr1:69523314-69523315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531338963	chr1:69523364-69523365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545308580	chr1:69523433-69523434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565074025	chr1:69523446-69523447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572204797	chr1:69523530-69523531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540872462	chr1:69523533-69523534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560996383	chr1:69523541-69523542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79767048	chr1:69523566-69523567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386367270	chr1:69523568-69523569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368620568	chr1:69523573-69523574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373906328	chr1:69523574-69523575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201193282	chr1:69523575-69523576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188824514	chr1:69523576-69523577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375990778	chr1:69523613-69523614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181680249	chr1:69523636-69523637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185908077	chr1:69523638-69523639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562923015	chr1:69523684-69523685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189153780	chr1:69523687-69523688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548179476	chr1:69523697-69523698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12097120	chr1:69523703-69523704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548515128	chr1:69523713-69523714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568515156	chr1:69523719-69523720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550725128	chr1:69523769-69523770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537523911	chr1:69523780-69523781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557763186	chr1:69523781-69523782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181956430	chr1:69523782-69523783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568975098	chr1:69523803-69523804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557526663	chr1:69523804-69523805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2661472	chr1:69523846-69523847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs551728604	chr1:69523923-69523924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566472603	chr1:69523931-69523932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538545858	chr1:69523973-69523974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539889231	chr1:69523988-69523989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185959272	chr1:69524089-69524090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572260807	chr1:69524092-69524093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141379517	chr1:69524139-69524140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555412637	chr1:69524151-69524152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114688982	chr1:69524179-69524180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69521200-69524800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:69521600-69523800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:69521600-69526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:69521600-69527200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:69521800-69523800	Weak transcription	HMEC	breast
6	chr1:69522800-69523000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:69523200-69523400	Enhancers	Brain Germinal Matrix	brain
8	chr1:69523800-69524200	Enhancers	HMEC	breast
9	chr1:69523800-69525000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:69523800-69525200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:69524800-69525000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:69525000-69526400	Enhancers	Fetal Lung	lung
13	chr1:69525000-69526800	Enhancers	Brain Germinal Matrix	brain
14	chr1:69526800-69527600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:69527200-69527600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:69527200-69527800	Enhancers	NHEK	skin
17	chr1:69534800-69535600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:69535800-69557000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:69536400-69537600	Enhancers	Dnd41	blood
20	chr1:69536800-69537600	Enhancers	Fetal Thymus	thymus
21	chr1:69537600-69537800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:69537800-69538000	ZNF genes & repeats	Spleen	Spleen
23	chr1:69541000-69542600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:69541000-69542600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:69541000-69544200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:69541200-69542600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:69541200-69544000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:69541600-69541800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:69541600-69542400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:69541600-69543200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:69542000-69543200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:69542400-69542600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:69542400-69542600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:69542400-69543200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:69542400-69543800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:69542400-69544000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:69542600-69542800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:69542600-69542800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:69542600-69543200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:69542600-69543400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:69542600-69543400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:69542600-69544600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:69542800-69543200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:69542800-69543200	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:69543200-69543600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:69543200-69543800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:69543200-69543800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:69543200-69543800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:69543200-69544000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:69543200-69544800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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