Variant report

Variant	nsv947160
Chromosome Location	chr1:221533184-221544885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 393 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116172196	chr1:221533234-221533235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569043439	chr1:221533282-221533283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192907475	chr1:221533310-221533311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151329168	chr1:221533329-221533330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12410731	chr1:221533350-221533351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs576557000	chr1:221533369-221533370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199707171	chr1:221533386-221533387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10625571	chr1:221533460-221533461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200331668	chr1:221533461-221533462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137919544	chr1:221533489-221533490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200304595	chr1:221533511-221533512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368416372	chr1:221533589-221533590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554435143	chr1:221533617-221533618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371885109	chr1:221533632-221533633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398089896	chr1:221533638-221533639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143386688	chr1:221533642-221533643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140579626	chr1:221533645-221533646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185569168	chr1:221533649-221533650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567712495	chr1:221533670-221533671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150093945	chr1:221533675-221533676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190454684	chr1:221533730-221533731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180835783	chr1:221533754-221533755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35380163	chr1:221533780-221533781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539320979	chr1:221533792-221533793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554474578	chr1:221533828-221533829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186068133	chr1:221533830-221533831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116396404	chr1:221533841-221533842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542433114	chr1:221533884-221533885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561535376	chr1:221533887-221533888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531636983	chr1:221533894-221533895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544985978	chr1:221533963-221533964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573633252	chr1:221533997-221533998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543948412	chr1:221533999-221534000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115829540	chr1:221534065-221534066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112022049	chr1:221534103-221534104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138621437	chr1:221534105-221534106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4846713	chr1:221534119-221534120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188665265	chr1:221534134-221534135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181417688	chr1:221534159-221534160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527602222	chr1:221534225-221534226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142685278	chr1:221534227-221534228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545428363	chr1:221534238-221534239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114339135	chr1:221534266-221534267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72746060	chr1:221534280-221534281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550329962	chr1:221534292-221534293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185749433	chr1:221534295-221534296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368432921	chr1:221534334-221534335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539205189	chr1:221534341-221534342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138002248	chr1:221534354-221534355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190463306	chr1:221534373-221534374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221520000-221536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221533600-221535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:221535400-221535600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:221535400-221537200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:221536000-221536800	Enhancers	Primary hematopoietic stem cells	blood
6	chr1:221536400-221536600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:221536400-221536800	Enhancers	Hela-S3	cervix
8	chr1:221536600-221537000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:221537000-221537200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:221537200-221538200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:221537200-221539200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:221537400-221540800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:221537800-221538000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:221538000-221538400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:221538000-221539000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:221538200-221538400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:221538400-221538800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:221538400-221538800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:221538400-221540200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:221538800-221540600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:221538800-221540600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr1:221538800-221540600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:221538800-221540800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:221539000-221540600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:221539200-221540400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:221539400-221540600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:221539600-221541200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:221539800-221540600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr1:221539800-221540600	Enhancers	HSMMtube	muscle
30	chr1:221540000-221540400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:221540000-221540600	Enhancers	Liver	Liver
32	chr1:221540400-221544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:221540600-221540800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:221540800-221543400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:221541800-221542200	Enhancers	Osteobl	bone
36	chr1:221541800-221542400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:221542000-221542200	Enhancers	NHDF-Ad	bronchial
38	chr1:221542200-221554400	Weak transcription	NHDF-Ad	bronchial
39	chr1:221543000-221543400	ZNF genes & repeats	Pancreas	Pancrea
40	chr1:221543400-221546400	Weak transcription	Pancreas	Pancrea
41	chr1:221543800-221544600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:221544600-221546200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:221544800-221545400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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