Variant report

Variant	nsv430531
Chromosome Location	chr12:103580090-103605121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:103345130..103346737-chr12:103603490..103605464,2	MCF-7	breast:
2	chr12:103350008..103351674-chr12:103594791..103596374,2	MCF-7	breast:
3	chr12:103600594..103603379-chr12:103611609..103613668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139352	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369858334	chr12:103583437-103583438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs184130737	chr12:103583456-103583457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566189373	chr12:103583485-103583486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368470385	chr12:103583501-103583502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147695622	chr12:103583548-103583549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554056805	chr12:103583594-103583595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs117786718	chr12:103583645-103583646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114276409	chr12:103583669-103583670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534197778	chr12:103583700-103583701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36010735	chr12:103583749-103583750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67967428	chr12:103583750-103583751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187865897	chr12:103583753-103583754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116550603	chr12:103583762-103583763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4015582	chr12:103583763-103583764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73185828	chr12:103583764-103583765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75331566	chr12:103583766-103583767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192429639	chr12:103583804-103583805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554932090	chr12:103583806-103583807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183761129	chr12:103583857-103583858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540700772	chr12:103583874-103583875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188137624	chr12:103583890-103583891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36033728	chr12:103583926-103583927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564733318	chr12:103583935-103583936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192915889	chr12:103583964-103583965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555746975	chr12:103583971-103583972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543967550	chr12:103583973-103583974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563829989	chr12:103583995-103583996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575503757	chr12:103584000-103584001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184577537	chr12:103584036-103584037	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs75537840	chr12:103584038-103584039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs561004857	chr12:103584039-103584040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566077203	chr12:103584118-103584119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528625828	chr12:103584161-103584162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs34803190	chr12:103584172-103584173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs398044739	chr12:103584176-103584177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551890456	chr12:103584211-103584212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs10778222	chr12:103584223-103584224	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539863490	chr12:103584246-103584247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539279335	chr12:103584298-103584299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556280020	chr12:103584302-103584303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142502532	chr12:103584319-103584320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs377576965	chr12:103584350-103584351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs143353314	chr12:103584400-103584401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs151309276	chr12:103584504-103584505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571689688	chr12:103584552-103584553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544719870	chr12:103584575-103584576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190331937	chr12:103591002-103591003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553892429	chr12:103591004-103591005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142429470	chr12:103591021-103591022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75638465	chr12:103591058-103591059	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:103583400-103583600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:103583600-103584600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:103584000-103584400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:103591000-103592400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:103591200-103592000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:103591400-103592000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:103591400-103592400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:103591600-103592000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:103591600-103592200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:103591600-103592200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:103591600-103592400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:103591600-103592400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:103591800-103592400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:103591800-103592400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:103600200-103602600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:103601600-103602600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:103602200-103602400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:103602200-103602800	Enhancers	Brain Germinal Matrix	brain
19	chr12:103602400-103604200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:103602600-103603200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr12:103603400-103603600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:103603600-103614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:103604200-103605600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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