Variant report

Variant	nsv523081
Chromosome Location	chr1:214999519-215006939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214999141..215002112-chr1:215005373..215009068,3	K562	blood:
2	chr1:214999141..215002112-chr1:215005373..215009068,3	K562	blood:
3	chr1:214997869..214999540-chr1:215739725..215741710,2	K562	blood:
4	chr1:214996798..214998880-chr1:215003398..215005711,2	K562	blood:

Variant related genes	Relation type
ENSG00000136636	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1272551	chr1:214999519-214999520	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375512713	chr1:214999586-214999587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2184837	chr1:214999609-214999610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537405638	chr1:214999682-214999683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554155508	chr1:214999684-214999685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112439427	chr1:214999706-214999707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574440179	chr1:214999716-214999717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181420470	chr1:214999749-214999750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560273810	chr1:214999827-214999828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576999676	chr1:214999828-214999829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563696284	chr1:214999855-214999856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546109312	chr1:214999860-214999861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375437419	chr1:214999876-214999877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562817268	chr1:214999906-214999907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113114895	chr1:214999969-214999970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144099824	chr1:215000048-215000049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369463220	chr1:215000072-215000073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186006003	chr1:215000095-215000096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190955744	chr1:215000175-215000176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561951450	chr1:215000176-215000177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527756926	chr1:215000186-215000187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553752682	chr1:215000197-215000198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1245009	chr1:215000207-215000208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571017814	chr1:215000267-215000268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539693702	chr1:215000310-215000311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549968286	chr1:215000318-215000319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542439942	chr1:215000328-215000329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184011540	chr1:215000378-215000379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535762293	chr1:215000403-215000404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554116625	chr1:215000419-215000420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574377917	chr1:215000428-215000429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111819607	chr1:215000514-215000515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562367878	chr1:215000530-215000531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116255103	chr1:215000538-215000539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542926803	chr1:215000541-215000542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561671073	chr1:215000543-215000544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186456697	chr1:215000544-215000545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148693983	chr1:215000582-215000583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546551544	chr1:215000587-215000588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369259648	chr1:215000610-215000611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144124656	chr1:215000678-215000679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190444698	chr1:215000691-215000692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576367253	chr1:215000700-215000701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564942511	chr1:215000703-215000704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562090551	chr1:215000734-215000735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527717765	chr1:215000740-215000741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77736366	chr1:215000782-215000783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117147488	chr1:215000784-215000785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183106847	chr1:215000801-215000802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146250759	chr1:215000812-215000813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Ovarian cancer	21720365	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214997200-215006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:215001400-215001600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:215001600-215002000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:215002000-215019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:215003400-215003800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:215004400-215004600	Enhancers	NHDF-Ad	bronchial
7	chr1:215004600-215005800	Weak transcription	NHDF-Ad	bronchial
8	chr1:215004800-215005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:215004800-215007200	Enhancers	HepG2	liver
10	chr1:215005000-215006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:215005800-215007200	Enhancers	NHDF-Ad	bronchial
12	chr1:215006000-215007200	Enhancers	Osteobl	bone
13	chr1:215006000-215007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:215006200-215007200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:215006200-215007400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:215006400-215007200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:215006400-215007200	Enhancers	NH-A	brain

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