Variant report

Variant	nsv899127
Chromosome Location	chr12:59575430-59683281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:
2	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:
3	chr12:59673431..59675592-chr12:59677210..59679968,2	MCF-7	breast:
4	chr12:59655684..59657205-chr12:59659679..59661187,2	MCF-7	breast:
5	chr12:59673431..59675592-chr12:59677210..59679968,2	MCF-7	breast:
6	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:
7	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:
8	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:
9	chr12:59655684..59657205-chr12:59659679..59661187,2	MCF-7	breast:
10	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:

No data

Extended variants
information (count: 1378 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1378 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192184582	chr12:59576006-59576007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551864939	chr12:59576015-59576016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79071868	chr12:59576022-59576023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527786751	chr12:59576031-59576032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76010053	chr12:59576035-59576036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567649833	chr12:59576057-59576058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371199732	chr12:59576063-59576064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79575110	chr12:59576067-59576068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74576462	chr12:59576086-59576087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571435180	chr12:59576112-59576113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538413646	chr12:59576141-59576142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371904752	chr12:59576159-59576160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371800840	chr12:59576411-59576412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187893768	chr12:59576412-59576413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10877230	chr12:59576474-59576475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368711788	chr12:59576491-59576492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372730863	chr12:59576504-59576505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116480058	chr12:59576526-59576527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193002930	chr12:59576549-59576550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34885421	chr12:59576590-59576591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533015221	chr12:59578466-59578467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77398733	chr12:59578533-59578534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528190935	chr12:59578602-59578603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192412956	chr12:59578636-59578637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182560294	chr12:59578666-59578667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188022215	chr12:59578698-59578699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536973227	chr12:59578723-59578724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79182113	chr12:59578784-59578785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61534302	chr12:59578816-59578817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370456704	chr12:59578841-59578842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374541130	chr12:59578842-59578843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10877232	chr12:59578868-59578869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs532478697	chr12:59578894-59578895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566669298	chr12:59578941-59578942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374665437	chr12:59578949-59578950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537608443	chr12:59578971-59578972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139187114	chr12:59578973-59578974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374653645	chr12:59578975-59578976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558784507	chr12:59578990-59578991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566298780	chr12:59579001-59579002	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148077662	chr12:59579003-59579004	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192355018	chr12:59579024-59579025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs11172932	chr12:59579072-59579073	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs574466364	chr12:59579078-59579079	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182512034	chr12:59579121-59579122	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78937117	chr12:59579163-59579164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs141357280	chr12:59579199-59579200	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79426502	chr12:59579220-59579221	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs187252754	chr12:59579241-59579242	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs35783092	chr12:59579254-59579255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	21293372	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59576000-59576200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59576400-59576600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:59578400-59579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:59578400-59579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:59578600-59580400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:59579000-59579200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:59579000-59579400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:59579200-59579400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:59579400-59579600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:59579400-59580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:59579600-59580000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:59579600-59580800	Enhancers	Brain Germinal Matrix	brain
13	chr12:59579800-59580600	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:59580000-59580400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:59580400-59580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:59585200-59585400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:59585200-59585400	Enhancers	HMEC	breast
18	chr12:59585400-59587200	Weak transcription	HMEC	breast
19	chr12:59585600-59587200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:59586000-59586800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:59587200-59587800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:59587200-59587800	Enhancers	HMEC	breast
23	chr12:59603600-59603800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:59603800-59608400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:59608400-59608600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:59608600-59609000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:59609000-59609800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:59609600-59610400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:59609800-59615400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:59610000-59610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:59628200-59628600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr12:59628600-59631800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:59631200-59632200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:59631600-59632000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:59631600-59632000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:59631600-59632200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:59631600-59632800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:59631800-59632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:59631800-59632200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:59632000-59634000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:59632200-59633000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:59632600-59632800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:59633400-59634200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:59633800-59634000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:59634000-59634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:59634000-59634200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:59634200-59635200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:59635200-59636000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:59638800-59644200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:59642400-59642600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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