Variant report

Variant	nsv559566
Chromosome Location	chr12:84103615-84155936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:
2	chr12:84142380..84143885-chr12:84146991..84148661,2	MCF-7	breast:
3	chr12:84138106..84138606-chr20:52739927..52740820,2	MCF-7	breast:

Extended variants
information (count: 848 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1603572	chr12:84103615-84103616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11832172	chr12:84103618-84103619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558406454	chr12:84103628-84103629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565131886	chr12:84103636-84103637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187924588	chr12:84103697-84103698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143622741	chr12:84103720-84103721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371250664	chr12:84103765-84103766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543251485	chr12:84103777-84103778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553706026	chr12:84103874-84103875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572415949	chr12:84103883-84103884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs542748743	chr12:84103887-84103888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs148055176	chr12:84103888-84103889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs193291497	chr12:84103889-84103890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544064759	chr12:84103892-84103893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185145145	chr12:84103902-84103903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs532827443	chr12:84103908-84103909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143858528	chr12:84103910-84103911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs147236601	chr12:84103963-84103964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188807462	chr12:84104021-84104022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555282382	chr12:84104057-84104058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs569757375	chr12:84104114-84104115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10779028	chr12:84104122-84104123	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551916877	chr12:84104155-84104156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs570317884	chr12:84104164-84104165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs534567556	chr12:84104166-84104167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs541057178	chr12:84104167-84104168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192592167	chr12:84104168-84104169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs372069429	chr12:84104173-84104174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559346275	chr12:84104219-84104220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10779029	chr12:84104234-84104235	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545495611	chr12:84104250-84104251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536677945	chr12:84104312-84104313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75082484	chr12:84104313-84104314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576448503	chr12:84104335-84104336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543956961	chr12:84104340-84104341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561055313	chr12:84104372-84104373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559145026	chr12:84104386-84104387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574820379	chr12:84104390-84104391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577522355	chr12:84104411-84104412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541735734	chr12:84104460-84104461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560041614	chr12:84104507-84104508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184076294	chr12:84104523-84104524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529633886	chr12:84104552-84104553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541841441	chr12:84104554-84104555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373533475	chr12:84104569-84104570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563624984	chr12:84104585-84104586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530492820	chr12:84104598-84104599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551866265	chr12:84104609-84104610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570305647	chr12:84104617-84104618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs528320146	chr12:84104665-84104666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84100400-84103800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:84103800-84105400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:84104200-84105200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr12:84104600-84105200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr12:84104600-84105200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:84104800-84105200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:84105200-84105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:84105200-84106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:84105400-84109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:84111200-84113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:84112600-84113000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:84113000-84113200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:84113200-84122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:84113400-84113800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:84113400-84113800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr12:84146600-84147600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:84146600-84147600	Enhancers	NHEK	skin
18	chr12:84146800-84147400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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