Variant report

Variant	nsv469413
Chromosome Location	chr12:59856161-59916767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:59914091..59917711-chr12:59989940..59992108,3	MCF-7	breast:
2	chr12:59894898..59897398-chr12:59898807..59901162,2	MCF-7	breast:
3	chr12:59894898..59897398-chr12:59898807..59901162,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 1247 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1247 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144448807	chr12:59859408-59859409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557003662	chr12:59859409-59859410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35962726	chr12:59859413-59859414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561467762	chr12:59859426-59859427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192627697	chr12:59859442-59859443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543846044	chr12:59859479-59859480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562340862	chr12:59859482-59859483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs276029	chr12:59859530-59859531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552582435	chr12:59859554-59859555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571094092	chr12:59859585-59859586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546163704	chr12:59859599-59859600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528720301	chr12:59859605-59859606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370651736	chr12:59859652-59859653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559271039	chr12:59859653-59859654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185011544	chr12:59859655-59859656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535941457	chr12:59859663-59859664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10783973	chr12:59859685-59859686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569132579	chr12:59859686-59859687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539755280	chr12:59859687-59859688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368317148	chr12:59859718-59859719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189942355	chr12:59859848-59859849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562182280	chr12:59859851-59859852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149173959	chr12:59859872-59859873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550516076	chr12:59859873-59859874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540040954	chr12:59859882-59859883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs276030	chr12:59859892-59859893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111655482	chr12:59859915-59859916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533437032	chr12:59859930-59859931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543951602	chr12:59859940-59859941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562541785	chr12:59859948-59859949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs276031	chr12:59859949-59859950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10877287	chr12:59859984-59859985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10877288	chr12:59860025-59860026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528753063	chr12:59860031-59860032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371379208	chr12:59860073-59860074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562260492	chr12:59860084-59860085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529433618	chr12:59860177-59860178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550781151	chr12:59860213-59860214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569300266	chr12:59860217-59860218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11173044	chr12:59860222-59860223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551706522	chr12:59860233-59860234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61933297	chr12:59860240-59860241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566471874	chr12:59860289-59860290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201329757	chr12:59860364-59860365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533834812	chr12:59860458-59860459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145634034	chr12:59860491-59860492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555171625	chr12:59860503-59860504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182168766	chr12:59860513-59860514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538013393	chr12:59860589-59860590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556010728	chr12:59860616-59860617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59859400-59859600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:59859600-59862400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:59862400-59865800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:59865400-59868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:59865600-59866400	Enhancers	Primary B cells from cord blood	blood
6	chr12:59865600-59866600	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:59865600-59867000	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:59865800-59867800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:59865800-59868000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:59865800-59868800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:59866000-59866400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:59866000-59866400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:59867400-59868000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:59867800-59868400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:59868400-59868600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:59868800-59870000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:59873600-59877800	Weak transcription	Primary B cells from cord blood	blood
18	chr12:59877600-59879000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:59877600-59879200	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:59877800-59878400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:59877800-59879000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:59877800-59879400	Enhancers	Primary B cells from cord blood	blood
23	chr12:59878000-59879000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:59880600-59881000	Enhancers	NHEK	skin
25	chr12:59885000-59886000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:59885000-59886200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:59885400-59886200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:59888400-59889200	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:59888600-59889200	Enhancers	Primary B cells from cord blood	blood
30	chr12:59889200-59893400	Weak transcription	Primary B cells from cord blood	blood
31	chr12:59889200-59893400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:59891800-59894400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:59893400-59893800	Enhancers	GM12878-XiMat	blood
34	chr12:59893400-59894200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr12:59893400-59894600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:59893400-59894800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:59893400-59895000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:59893400-59895000	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:59893400-59895000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:59893400-59895200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr12:59893400-59895400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr12:59893400-59895600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:59893400-59895800	Enhancers	Primary B cells from cord blood	blood
44	chr12:59893600-59893800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:59893600-59894600	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:59893600-59895400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:59893600-59895600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr12:59893600-59895800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr12:59893800-59894400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:59894000-59894400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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