Variant report

Variant	nsv973051
Chromosome Location	chr12:34110709-34114180
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	chr12:34095993..34098950-chr12:34112537..34115292,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528118796	chr12:34110724-34110725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548195128	chr12:34110781-34110782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568801066	chr12:34110812-34110813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540661879	chr12:34110907-34110908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537713635	chr12:34110911-34110912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374131427	chr12:34110930-34110931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571007854	chr12:34110933-34110934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560492852	chr12:34111041-34111042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11053020	chr12:34111092-34111093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs553229819	chr12:34111106-34111107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566940721	chr12:34111109-34111110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6488200	chr12:34111118-34111119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186066788	chr12:34111128-34111129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182504	chr12:34111137-34111138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs80337273	chr12:34111150-34111151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11053021	chr12:34111157-34111158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs371678043	chr12:34111178-34111179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370497871	chr12:34111210-34111211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138769681	chr12:34111264-34111265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545971472	chr12:34111265-34111266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531181567	chr12:34111273-34111274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559219915	chr12:34111278-34111279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs814661	chr12:34111494-34111495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541870485	chr12:34111534-34111535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367835553	chr12:34111549-34111550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561626027	chr12:34111567-34111568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531232761	chr12:34111576-34111577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535189521	chr12:34111579-34111580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551340707	chr12:34111584-34111585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77512572	chr12:34111590-34111591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571112147	chr12:34111594-34111595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80103305	chr12:34111702-34111703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547150021	chr12:34111707-34111708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190417513	chr12:34111725-34111726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371977804	chr12:34111731-34111732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180725162	chr12:34111759-34111760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376263687	chr12:34111778-34111779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555352122	chr12:34111782-34111783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568866650	chr12:34111814-34111815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537846327	chr12:34111826-34111827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556878428	chr12:34111836-34111837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577053570	chr12:34111911-34111912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547832641	chr12:34111954-34111955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376919412	chr12:34112038-34112039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545710631	chr12:34112068-34112069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371712571	chr12:34112076-34112077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145290289	chr12:34112085-34112086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs814660	chr12:34112097-34112098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541897250	chr12:34112101-34112102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368600315	chr12:34112156-34112157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34093800-34130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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