Variant report

Variant	nsv1010921
Chromosome Location	chr1:70148694-70182578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70167840..70169400-chr1:70172626..70174269,2	K562	blood:
2	chr1:69248404..69248919-chr1:70166513..70167083,2	MCF-7	breast:
3	chr1:70167840..70169400-chr1:70172626..70174269,2	K562	blood:
4	chr1:70169160..70170031-chr1:108868959..108869793,2	MCF-7	breast:
5	chr1:68935773..68936324-chr1:70166195..70166731,2	MCF-7	breast:

Extended variants
information (count: 1265 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1265 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548344239	chr1:70148698-70148699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111317130	chr1:70148744-70148745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530583400	chr1:70148758-70148759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12022970	chr1:70148759-70148760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs190054528	chr1:70148870-70148871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182990376	chr1:70148876-70148877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528650978	chr1:70148893-70148894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546868257	chr1:70148912-70148913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566772430	chr1:70148916-70148917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542544329	chr1:70148983-70148984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139435692	chr1:70149025-70149026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145158352	chr1:70149085-70149086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147164874	chr1:70149104-70149105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538303091	chr1:70149112-70149113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139590689	chr1:70149122-70149123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577944689	chr1:70149155-70149156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546163870	chr1:70149181-70149182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187247932	chr1:70149210-70149211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374569408	chr1:70149214-70149215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573136419	chr1:70149261-70149262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542050605	chr1:70149263-70149264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192318943	chr1:70149284-70149285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374073680	chr1:70149303-70149304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74988680	chr1:70149346-70149347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398089333	chr1:70149350-70149351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7522191	chr1:70149356-70149357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149708364	chr1:70149361-70149362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563954479	chr1:70149392-70149393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571256874	chr1:70149454-70149455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183643786	chr1:70149472-70149473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35637682	chr1:70149565-70149566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397698448	chr1:70149566-70149567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397701928	chr1:70149567-70149568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566825707	chr1:70149601-70149602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529515524	chr1:70149603-70149604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189033599	chr1:70149614-70149615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569418368	chr1:70149619-70149620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536941038	chr1:70149625-70149626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78373028	chr1:70149679-70149680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578196248	chr1:70149700-70149701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192479138	chr1:70149723-70149724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145626153	chr1:70149767-70149768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560580556	chr1:70149774-70149775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148895202	chr1:70149788-70149789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111918507	chr1:70149790-70149791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183720786	chr1:70149794-70149795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542113736	chr1:70149809-70149810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555310750	chr1:70149815-70149816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144142007	chr1:70149888-70149889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544023905	chr1:70149960-70149961	Weak transcription	n/a	n/a	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
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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70137200-70167400	Weak transcription	Fetal Brain Male	brain
2	chr1:70137400-70160400	Weak transcription	Fetal Brain Female	brain
3	chr1:70138600-70155600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:70146200-70154000	Weak transcription	Brain Germinal Matrix	brain
5	chr1:70146600-70150600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:70147800-70162400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:70149200-70152600	Weak transcription	Fetal Stomach	stomach
8	chr1:70150600-70151600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:70151600-70153000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:70153000-70163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:70153600-70154000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:70153600-70157400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:70153600-70158200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:70154000-70154400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:70154400-70156800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:70155600-70156600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:70155800-70156400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:70155800-70156600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:70155800-70156800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:70155800-70156800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:70155800-70156800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr1:70155800-70157000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:70156000-70156800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:70156800-70157200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:70157200-70157400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:70157200-70159600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:70158200-70161400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:70159000-70160400	Enhancers	HMEC	breast
29	chr1:70159200-70160600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:70159200-70160600	Enhancers	NHEK	skin
31	chr1:70159600-70160400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:70159600-70160400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:70159800-70160200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:70159800-70160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:70160400-70161600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:70160400-70162000	ZNF genes & repeats	Fetal Brain Female	brain
37	chr1:70160400-70167800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:70160600-70161200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:70161400-70161600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:70161600-70162000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:70161800-70162000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:70162000-70167800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:70162000-70168800	Weak transcription	Fetal Brain Female	brain
44	chr1:70162400-70162600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:70163000-70163200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:70163200-70171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:70165200-70166400	Enhancers	Fetal Heart	heart
48	chr1:70165400-70166000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:70167200-70167600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:70167800-70168200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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