Variant report

Variant	nsv946403
Chromosome Location	chr1:161684490-161685490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161682680..161684961-chr1:161687579..161689831,2	MCF-7	breast:
2	chr1:161675805..161679320-chr1:161682670..161685328,3	MCF-7	breast:
3	chr1:161683127..161685809-chr1:161696033..161698160,3	MCF-7	breast:
4	chr1:161682653..161684902-chr1:161694851..161697691,2	MCF-7	breast:
5	chr1:161677337..161680317-chr1:161682916..161686407,3	MCF-7	breast:
6	chr1:161683932..161685963-chr1:161703993..161706615,2	MCF-7	breast:
7	chr1:161683948..161686856-chr1:161718462..161720614,2	K562	blood:

Variant related genes	Relation type
ENSG00000162746	chromatin interactions
ENSG00000081721	chromatin interactions
ENSG00000241347	chromatin interactions
ENSG00000132185	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187207167	chr1:161684509-161684510	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs115913034	chr1:161684513-161684514	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs547067392	chr1:161684536-161684537	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs570183769	chr1:161684558-161684559	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs190875204	chr1:161684568-161684569	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs6683580	chr1:161684569-161684570	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs148404773	chr1:161684598-161684599	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs201040255	chr1:161684600-161684601	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs569898924	chr1:161684613-161684614	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs2333749	chr1:161684621-161684622	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
11	rs555310692	chr1:161684670-161684671	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs565847862	chr1:161684671-161684672	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs534784842	chr1:161684696-161684697	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558301043	chr1:161684711-161684712	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs578112596	chr1:161684759-161684760	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs182687161	chr1:161684781-161684782	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs7525788	chr1:161684800-161684801	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs61801162	chr1:161684803-161684804	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs200621358	chr1:161684806-161684807	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs574289335	chr1:161684815-161684816	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs63612460	chr1:161684816-161684817	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs78734825	chr1:161684818-161684819	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs543289678	chr1:161684842-161684843	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs16852562	chr1:161684873-161684874	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs905595	chr1:161684890-161684891	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs545161064	chr1:161684922-161684923	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs6427619	chr1:161684981-161684982	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs114891490	chr1:161685005-161685006	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553902335	chr1:161685039-161685040	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs549551579	chr1:161685056-161685057	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs569620839	chr1:161685067-161685068	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs564785546	chr1:161685081-161685082	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188079738	chr1:161685120-161685121	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs202125870	chr1:161685132-161685133	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs6427620	chr1:161685138-161685139	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563789148	chr1:161685141-161685142	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs6427621	chr1:161685170-161685171	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs534818840	chr1:161685212-161685213	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs557936649	chr1:161685218-161685219	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs12406801	chr1:161685239-161685240	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs537541155	chr1:161685325-161685326	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs16853682	chr1:161685357-161685358	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191762440	chr1:161685384-161685385	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377603963	chr1:161685432-161685433	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs370262591	chr1:161685447-161685448	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs6697814	chr1:161685472-161685473	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150990926	chr1:161685475-161685476	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs576879430	chr1:161685487-161685488	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161676200-161692000	Weak transcription	Spleen	Spleen
2	chr1:161682600-161689600	Weak transcription	K562	blood
3	chr1:161683600-161684600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:161683800-161686000	Weak transcription	GM12878-XiMat	blood
5	chr1:161683800-161686800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:161684200-161686600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:161684600-161688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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