Variant report

Variant	nsv159143
Chromosome Location	chr1:221214889-221215993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221206891..221209898-chr1:221213068..221215550,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532317909	chr1:221214896-221214897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7515981	chr1:221214966-221214967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561502670	chr1:221214974-221214975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527385288	chr1:221215071-221215072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547444269	chr1:221215093-221215094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570371918	chr1:221215099-221215100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532927963	chr1:221215108-221215109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187336174	chr1:221215117-221215118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12072517	chr1:221215212-221215213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4582795	chr1:221215215-221215216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529920868	chr1:221215219-221215220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79814233	chr1:221215245-221215246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190904257	chr1:221215246-221215247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555211951	chr1:221215294-221215295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183475617	chr1:221215421-221215422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141542798	chr1:221215448-221215449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554221556	chr1:221215461-221215462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145290086	chr1:221215474-221215475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539815256	chr1:221215475-221215476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370867029	chr1:221215520-221215521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574747861	chr1:221215547-221215548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575939327	chr1:221215558-221215559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186628800	chr1:221215561-221215562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191577111	chr1:221215574-221215575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372322808	chr1:221215575-221215576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183254943	chr1:221215589-221215590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542547526	chr1:221215629-221215630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137883382	chr1:221215636-221215637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17514989	chr1:221215683-221215684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142489704	chr1:221215707-221215708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143944037	chr1:221215726-221215727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563235866	chr1:221215739-221215740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114037771	chr1:221215740-221215741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188079748	chr1:221215752-221215753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193077532	chr1:221215753-221215754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565177752	chr1:221215817-221215818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536233772	chr1:221215912-221215913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568703624	chr1:221215913-221215914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534380879	chr1:221215918-221215919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556547793	chr1:221215939-221215940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221209600-221218600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:221209600-221219600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:221213200-221221000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:221213800-221219200	Weak transcription	NHDF-Ad	bronchial
5	chr1:221214000-221219600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:221214400-221219200	Weak transcription	K562	blood
7	chr1:221214400-221219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:221214600-221218800	Weak transcription	NHLF	lung
9	chr1:221214600-221219600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:221214600-221219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:221214600-221219800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:221214800-221215000	Weak transcription	Hela-S3	cervix
13	chr1:221215000-221215400	Enhancers	Hela-S3	cervix
14	chr1:221215400-221219600	Weak transcription	Hela-S3	cervix

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