Variant report

Variant	nsv899152
Chromosome Location	chr12:62370229-62390624
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:62387442..62388147-chr12:62586163..62586812,2	MCF-7	breast:
2	chr12:61939871..61940437-chr12:62387297..62388211,3	MCF-7	breast:
3	chr12:60894975..60895756-chr12:62387590..62388098,2	MCF-7	breast:
4	chr12:62378419..62380347-chr12:62381882..62384043,2	K562	blood:
5	chr12:62378419..62380347-chr12:62381882..62384043,2	K562	blood:
6	chr12:62048165..62049231-chr12:62387283..62388132,7	MCF-7	breast:
7	chr12:62380548..62382295-chr12:62382929..62385627,2	MCF-7	breast:
8	chr12:61822855..61824630-chr12:62390503..62393060,2	K562	blood:
9	chr12:62380548..62382295-chr12:62382929..62385627,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198673	chromatin interactions

Extended variants
information (count: 430 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112582789	chr12:62373244-62373245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562915753	chr12:62373253-62373254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532063812	chr12:62373256-62373257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551775412	chr12:62373265-62373266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373395158	chr12:62373310-62373311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186244085	chr12:62373314-62373315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188279154	chr12:62373369-62373370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547772070	chr12:62373470-62373471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141791161	chr12:62373550-62373551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180930900	chr12:62378163-62378164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539050205	chr12:62378184-62378185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535371791	chr12:62378813-62378814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370546195	chr12:62378817-62378818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555381563	chr12:62378819-62378820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575129727	chr12:62378832-62378833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543765077	chr12:62378853-62378854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563854241	chr12:62378864-62378865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181229682	chr12:62378901-62378902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141451945	chr12:62378940-62378941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540452581	chr12:62378989-62378990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187146478	chr12:62378991-62378992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34556240	chr12:62379034-62379035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191582477	chr12:62379064-62379065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549406492	chr12:62379093-62379094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113201290	chr12:62379128-62379129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181628796	chr12:62379135-62379136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531750033	chr12:62379161-62379162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78081044	chr12:62379167-62379168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571792301	chr12:62379200-62379201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556156672	chr12:62379251-62379252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534265956	chr12:62379357-62379358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576065197	chr12:62379384-62379385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545078618	chr12:62379469-62379470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546809595	chr12:62379502-62379503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186310374	chr12:62379539-62379540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535789429	chr12:62379547-62379548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370988588	chr12:62379550-62379551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375312883	chr12:62379557-62379558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115583473	chr12:62379605-62379606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575461111	chr12:62379634-62379635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190771449	chr12:62379642-62379643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550821488	chr12:62379657-62379658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557307821	chr12:62379697-62379698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375587002	chr12:62379704-62379705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565087031	chr12:62379705-62379706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539928795	chr12:62379761-62379762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554388917	chr12:62379766-62379767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532974829	chr12:62379772-62379773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368185528	chr12:62380628-62380629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144750399	chr12:62380658-62380659	Enhancers	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
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
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
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	20369283	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62373200-62373600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:62378000-62378200	Enhancers	Aorta	Aorta
3	chr12:62378800-62379800	Enhancers	Adipose Nuclei	Adipose
4	chr12:62380600-62382000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:62380800-62381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:62381000-62381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:62381400-62381800	Enhancers	Liver	Liver
8	chr12:62381400-62385000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:62381400-62385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:62382000-62384800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:62384800-62386400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:62384800-62386400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr12:62385000-62385400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:62385000-62385600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:62385200-62386400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:62385400-62385800	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:62385400-62385800	Active TSS	Ovary	ovary
18	chr12:62385400-62386000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:62385400-62386000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:62385600-62385800	Enhancers	Fetal Lung	lung
21	chr12:62385600-62386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:62385800-62386400	Enhancers	Ovary	ovary
23	chr12:62386000-62386200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr12:62386000-62386400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:62386400-62387400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:62386400-62389800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:62386400-62390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:62386400-62392600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:62387400-62387800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:62387800-62392600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:62389800-62390200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:62390000-62390600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:62390200-62391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:62390600-62391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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