Variant report

Variant	nsv1000787
Chromosome Location	chr1:90809476-90874481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:90852283..90854067-chr1:90856545..90859421,2	MCF-7	breast:
2	chr1:90852283..90854067-chr1:90856545..90859421,2	MCF-7	breast:
3	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:
4	chr1:90840392..90842007-chr1:90922500..90924019,2	K562	blood:
5	chr1:90734199..90736492-chr1:90847892..90850579,2	K562	blood:
6	chr1:90823417..90825401-chr1:90827487..90829042,2	K562	blood:

Extended variants
information (count: 2080 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2080 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573387508	chr1:90809483-90809484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540443505	chr1:90809486-90809487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372532173	chr1:90809582-90809583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558123852	chr1:90809619-90809620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181534777	chr1:90809646-90809647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375214757	chr1:90809681-90809682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573773467	chr1:90809810-90809811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544245450	chr1:90809856-90809857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4557956	chr1:90809862-90809863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534592418	chr1:90809874-90809875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533133268	chr1:90809882-90809883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541703456	chr1:90809917-90809918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552446560	chr1:90809955-90809956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78712978	chr1:90810023-90810024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142398169	chr1:90810111-90810112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184821676	chr1:90810126-90810127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530943802	chr1:90810145-90810146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572607467	chr1:90810150-90810151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535543636	chr1:90810200-90810201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550638174	chr1:90810205-90810206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568880440	chr1:90810218-90810219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565469345	chr1:90810225-90810226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367934194	chr1:90810229-90810230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116739943	chr1:90810248-90810249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10801801	chr1:90810268-90810269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558446536	chr1:90810270-90810271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573443001	chr1:90810312-90810313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534431926	chr1:90810343-90810344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533399330	chr1:90810361-90810362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150023434	chr1:90810362-90810363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555537133	chr1:90810385-90810386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573836352	chr1:90810391-90810392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189244937	chr1:90810408-90810409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562594901	chr1:90810409-90810410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577985081	chr1:90810415-90810416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74099432	chr1:90810457-90810458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564442395	chr1:90810458-90810459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528356384	chr1:90810470-90810471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540482391	chr1:90810514-90810515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561857180	chr1:90810560-90810561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139843910	chr1:90810580-90810581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74661780	chr1:90810581-90810582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74099433	chr1:90810607-90810608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs180956152	chr1:90810622-90810623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143272671	chr1:90810626-90810627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551067626	chr1:90810627-90810628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567198967	chr1:90810652-90810653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369707395	chr1:90810657-90810658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534216173	chr1:90810661-90810662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76153442	chr1:90810679-90810680	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90806400-90810000	Weak transcription	GM12878-XiMat	blood
2	chr1:90807200-90810200	Weak transcription	Dnd41	blood
3	chr1:90810000-90811600	Enhancers	GM12878-XiMat	blood
4	chr1:90810200-90813400	Enhancers	Dnd41	blood
5	chr1:90811000-90811400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:90812400-90812600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:90812400-90813200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:90813400-90814200	Weak transcription	Dnd41	blood
9	chr1:90814200-90815000	ZNF genes & repeats	Dnd41	blood
10	chr1:90814800-90815200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:90815000-90816400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:90816400-90817200	Strong transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:90817200-90818800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:90818200-90818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:90822600-90822800	Enhancers	GM12878-XiMat	blood
16	chr1:90822800-90824000	Weak transcription	GM12878-XiMat	blood
17	chr1:90823000-90823800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:90823400-90823800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:90823400-90823800	Enhancers	Aorta	Aorta
20	chr1:90823400-90824000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:90823400-90824400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:90823600-90823800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:90823600-90824000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:90823600-90824000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:90823600-90824000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:90824000-90824800	Enhancers	GM12878-XiMat	blood
27	chr1:90824000-90825200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:90824000-90825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:90825200-90826000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:90825400-90825600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:90825400-90826000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:90825600-90825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:90825600-90825800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:90825600-90826000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:90825600-90826000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:90826000-90829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:90828000-90828200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:90828000-90828200	Enhancers	HMEC	breast
39	chr1:90829000-90829200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:90832600-90832800	Enhancers	Aorta	Aorta
41	chr1:90832800-90835600	Weak transcription	Aorta	Aorta
42	chr1:90835600-90836000	Enhancers	Spleen	Spleen
43	chr1:90835600-90836600	Enhancers	Aorta	Aorta
44	chr1:90835800-90836600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:90835800-90836800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:90835800-90838000	Enhancers	Dnd41	blood
47	chr1:90836000-90837200	Enhancers	HSMMtube	muscle
48	chr1:90836000-90837200	Enhancers	Osteobl	bone
49	chr1:90836000-90837400	Enhancers	HSMM	muscle
50	chr1:90836200-90836600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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