Variant report

Variant	nsv511496
Chromosome Location	chr12:74103167-74113028
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	chr12:74101710..74104445-chr12:74107767..74109671,2	MCF-7	breast:
2	chr12:74101710..74104445-chr12:74107767..74109671,2	MCF-7	breast:

Extended variants
information (count: 238 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:238 , 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	rs147546042	chr12:74107207-74107208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148162079	chr12:74107209-74107210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571635442	chr12:74107212-74107213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541918572	chr12:74107215-74107216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187218696	chr12:74107227-74107228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192179878	chr12:74107228-74107229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183854711	chr12:74107315-74107316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534522071	chr12:74107318-74107319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188198592	chr12:74107350-74107351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532140562	chr12:74107363-74107364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551838323	chr12:74107387-74107388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192760619	chr12:74107402-74107403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10879664	chr12:74107408-74107409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11179754	chr12:74107434-74107435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374731234	chr12:74107442-74107443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533722625	chr12:74107446-74107447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578244992	chr12:74107500-74107501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141853691	chr12:74107501-74107502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535869352	chr12:74107513-74107514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12311452	chr12:74107521-74107522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184449439	chr12:74107522-74107523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11610704	chr12:74107560-74107561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12311462	chr12:74107580-74107581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576065440	chr12:74107644-74107645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372389183	chr12:74107658-74107659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139790432	chr12:74107673-74107674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10879665	chr12:74107680-74107681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189325916	chr12:74107684-74107685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368032939	chr12:74107711-74107712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117357176	chr12:74107725-74107726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578218849	chr12:74107762-74107763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544116912	chr12:74107773-74107774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540605953	chr12:74107796-74107797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562500124	chr12:74107849-74107850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531312893	chr12:74107856-74107857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10785067	chr12:74107895-74107896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561735567	chr12:74107914-74107915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144402249	chr12:74107918-74107919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529994980	chr12:74107923-74107924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143651745	chr12:74107924-74107925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575403904	chr12:74107962-74107963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192374408	chr12:74107986-74107987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7973885	chr12:74108000-74108001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549650785	chr12:74108017-74108018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569736239	chr12:74108083-74108084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146244154	chr12:74108128-74108129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555450279	chr12:74108166-74108167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539479341	chr12:74108172-74108173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565991131	chr12:74108175-74108176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535112796	chr12:74108241-74108242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74107200-74107400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:74107400-74108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:74108400-74108800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:74108800-74110000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:74109600-74110000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:74110000-74110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:74110200-74110400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:74110400-74110600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:74110600-74119000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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