Variant report

Variant	nsv1050375
Chromosome Location	chr12:59550900-59655366
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:
2	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:
3	chr12:59543592..59544432-chr12:59558545..59559537,3	MCF-7	breast:
4	chr12:59567506..59568224-chr12:59739584..59740478,2	MCF-7	breast:
5	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:
6	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:
7	chr12:59567188..59568180-chr12:59766489..59767406,3	MCF-7	breast:
8	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:

No data

Extended variants
information (count: 1877 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542231484	chr12:59550912-59550913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74092079	chr12:59550936-59550937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572962291	chr12:59550943-59550944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs139945318	chr12:59550960-59550961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370012368	chr12:59551059-59551060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs80123400	chr12:59551085-59551086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561146324	chr12:59551120-59551121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563117519	chr12:59551163-59551164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78164405	chr12:59551209-59551210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530484497	chr12:59551219-59551220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543598340	chr12:59551228-59551229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17122179	chr12:59551235-59551236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532344072	chr12:59551265-59551266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547139610	chr12:59551304-59551305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74512523	chr12:59551306-59551307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113251739	chr12:59551356-59551357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570324510	chr12:59551360-59551361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5798484	chr12:59551361-59551362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372353868	chr12:59551362-59551363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35686403	chr12:59551363-59551364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567611835	chr12:59551396-59551397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139517377	chr12:59551398-59551399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550455789	chr12:59551399-59551400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546224706	chr12:59551467-59551468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10877213	chr12:59551515-59551516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530128249	chr12:59551591-59551592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539236532	chr12:59551599-59551600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113867067	chr12:59551606-59551607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11172919	chr12:59551651-59551652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180950990	chr12:59551744-59551745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149897805	chr12:59551750-59551751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10877214	chr12:59551751-59551752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576387974	chr12:59551755-59551756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543311072	chr12:59551760-59551761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10877215	chr12:59551798-59551799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576932035	chr12:59551831-59551832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541247123	chr12:59551840-59551841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74342800	chr12:59551850-59551851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529781779	chr12:59551871-59551872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144901758	chr12:59551875-59551876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111430747	chr12:59551888-59551889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141921501	chr12:59551903-59551904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144928912	chr12:59551953-59551954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186362003	chr12:59551989-59551990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191315575	chr12:59552019-59552020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12422827	chr12:59552034-59552035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532576994	chr12:59552035-59552036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537924520	chr12:59552064-59552065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75637257	chr12:59552094-59552095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141793096	chr12:59552183-59552184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59546800-59551200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:59550400-59551200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:59550800-59551000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:59551000-59557600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:59552000-59552600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:59552400-59552600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:59557400-59559000	Enhancers	NH-A	brain
8	chr12:59557600-59559000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:59558200-59558600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr12:59558600-59558800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:59558600-59559000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:59558600-59559000	Enhancers	Osteobl	bone
13	chr12:59558800-59559000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:59558800-59559000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:59559000-59560600	Weak transcription	NH-A	brain
16	chr12:59559200-59561200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:59559600-59562000	Enhancers	Fetal Intestine Small	intestine
18	chr12:59559600-59562800	Enhancers	Fetal Intestine Large	intestine
19	chr12:59559800-59560800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:59560000-59560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:59560000-59560600	Enhancers	Stomach Mucosa	stomach
22	chr12:59560200-59560400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:59560400-59563200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:59560600-59561000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:59560600-59561000	Enhancers	NH-A	brain
26	chr12:59561200-59561600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:59561600-59561800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:59561800-59562200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:59561800-59562800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:59561800-59562800	Enhancers	Fetal Brain Female	brain
31	chr12:59562200-59562800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:59562200-59563000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:59562400-59562800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:59562400-59562800	Enhancers	Brain Germinal Matrix	brain
35	chr12:59570400-59570800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:59570800-59571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:59572200-59572400	Enhancers	HMEC	breast
38	chr12:59572400-59573400	Weak transcription	HMEC	breast
39	chr12:59573000-59573800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:59573200-59573600	Enhancers	Hela-S3	cervix
41	chr12:59573400-59573800	Enhancers	HMEC	breast
42	chr12:59573800-59575000	Weak transcription	HMEC	breast
43	chr12:59573800-59575400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:59575000-59575400	Enhancers	HMEC	breast
45	chr12:59575200-59575400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:59576000-59576200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:59576400-59576600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:59578400-59579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:59578400-59579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:59578600-59580400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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