Variant report

Variant	nsv558218
Chromosome Location	chr12:33302438-33334261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33326381..33328792-chr12:33334118..33335651,2	MCF-7	breast:
2	chr12:33330756..33333528-chr12:33336266..33338404,2	K562	blood:
3	chr12:33332688..33334476-chr12:33590436..33592933,2	MCF-7	breast:
4	chr12:33333640..33335661-chr12:33603103..33604823,2	MCF-7	breast:
5	chr12:33326381..33328792-chr12:33334118..33335651,2	MCF-7	breast:
6	chr12:33329813..33331399-chr12:34175008..34176744,2	K562	blood:
7	chr12:33334030..33336914-chr12:33342942..33345656,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110975	chromatin interactions
ENSG00000139133	chromatin interactions

Extended variants
information (count: 273 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10772040	chr12:33302438-33302439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114500800	chr12:33302474-33302475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376208770	chr12:33302506-33302507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148017719	chr12:33302560-33302561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183682659	chr12:33302578-33302579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76195641	chr12:33302615-33302616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112984059	chr12:33302639-33302640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187918270	chr12:33302652-33302653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192710129	chr12:33302656-33302657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564013083	chr12:33302680-33302681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183737048	chr12:33302688-33302689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188409482	chr12:33302726-33302727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192629572	chr12:33302853-33302854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141659929	chr12:33302854-33302855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73311602	chr12:33302855-33302856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548355047	chr12:33302858-33302859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184963992	chr12:33302868-33302869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74403024	chr12:33302890-33302891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540239230	chr12:33302913-33302914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147510528	chr12:33302944-33302945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140053083	chr12:33302951-33302952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10844482	chr12:33303061-33303062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143978835	chr12:33303063-33303064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571911700	chr12:33303067-33303068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541129517	chr12:33303150-33303151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554657613	chr12:33303182-33303183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574577008	chr12:33303183-33303184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189847580	chr12:33303185-33303186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563851560	chr12:33303207-33303208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35862721	chr12:33303222-33303223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533145192	chr12:33303244-33303245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147333951	chr12:33303292-33303293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs983985	chr12:33303293-33303294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367916652	chr12:33303330-33303331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4931690	chr12:33303342-33303343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs139986528	chr12:33303348-33303349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548561587	chr12:33303383-33303384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373602845	chr12:33303386-33303387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568253910	chr12:33303401-33303402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182006169	chr12:33303409-33303410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186072919	chr12:33303420-33303421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73098683	chr12:33303443-33303444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189311346	chr12:33303489-33303490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181991411	chr12:33303523-33303524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184998258	chr12:33303603-33303604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7972327	chr12:33303610-33303611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74639926	chr12:33303615-33303616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372661894	chr12:33303623-33303624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554590002	chr12:33303650-33303651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567610717	chr12:33303663-33303664	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
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33300800-33304200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33304200-33304600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:33305000-33306200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:33331600-33334600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:33333200-33335400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:33333400-33334200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:33333600-33334000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:33334200-33334400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:33334200-33345000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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