Variant report

Variant	nsv524555
Chromosome Location	chr12:63080231-63086591
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	chr12:63083624..63086955-chr12:63088722..63092795,3	MCF-7	breast:
2	chr12:63086305..63088144-chr12:63100380..63102991,2	MCF-7	breast:
3	chr12:63085784..63087372-chr12:63092972..63095214,2	MCF-7	breast:
4	chr12:63080648..63083389-chr12:63085536..63088456,3	MCF-7	breast:
5	chr12:63080648..63083389-chr12:63085536..63088456,3	MCF-7	breast:
6	chr12:63077508..63079234-chr12:63080759..63082975,2	MCF-7	breast:
7	chr12:63071741..63073934-chr12:63080456..63082263,2	MCF-7	breast:
8	chr12:63077645..63079801-chr12:63080578..63082441,2	K562	blood:

No data

Extended variants
information (count: 277 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:277 , 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	rs7955030	chr12:63080231-63080232	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189022222	chr12:63080233-63080234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376452567	chr12:63080261-63080262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561867241	chr12:63080318-63080319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141469288	chr12:63080351-63080352	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553102701	chr12:63080362-63080363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7968556	chr12:63080363-63080364	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7968355	chr12:63080404-63080405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181039341	chr12:63080409-63080410	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546299198	chr12:63080422-63080423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202115270	chr12:63080456-63080457	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113119408	chr12:63080468-63080469	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78698312	chr12:63080510-63080511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535761959	chr12:63080512-63080513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117761675	chr12:63080519-63080520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184023577	chr12:63080531-63080532	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538042550	chr12:63080547-63080548	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138355471	chr12:63080556-63080557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370004924	chr12:63080575-63080576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7968609	chr12:63080579-63080580	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75387101	chr12:63080580-63080581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534265461	chr12:63080610-63080611	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554219644	chr12:63080617-63080618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574036192	chr12:63080640-63080641	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556069099	chr12:63080670-63080671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200397855	chr12:63080675-63080676	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11310268	chr12:63080676-63080677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535794586	chr12:63080688-63080689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74096900	chr12:63080708-63080709	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7958459	chr12:63080713-63080714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112559083	chr12:63080723-63080724	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117336450	chr12:63080725-63080726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7958476	chr12:63080746-63080747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7958477	chr12:63080748-63080749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7971595	chr12:63080763-63080764	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564275359	chr12:63080789-63080790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7971815	chr12:63080830-63080831	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577677517	chr12:63080831-63080832	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111265138	chr12:63080838-63080839	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559765987	chr12:63080851-63080852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180889871	chr12:63080915-63080916	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186072358	chr12:63080942-63080943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562823059	chr12:63080962-63080963	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143484114	chr12:63081155-63081156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377626950	chr12:63081156-63081157	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551698964	chr12:63081174-63081175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527952696	chr12:63081238-63081239	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558198730	chr12:63081239-63081240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571772868	chr12:63081256-63081257	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547780764	chr12:63081268-63081269	Weak transcription Enhancers Strong 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
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
abnormal development	18461090	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63067400-63116800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:63068800-63102800	Weak transcription	Right Ventricle	heart
3	chr12:63069400-63096600	Weak transcription	Fetal Kidney	kidney
4	chr12:63071400-63083200	Weak transcription	Gastric	stomach
5	chr12:63071400-63087000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:63071600-63087000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63071600-63096400	Weak transcription	Left Ventricle	heart
8	chr12:63072000-63082000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:63072000-63082400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:63072000-63089200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:63074000-63086200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:63074200-63092000	Strong transcription	HepG2	liver
13	chr12:63074600-63096400	Weak transcription	Pancreas	Pancrea
14	chr12:63075600-63081400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:63076200-63081200	Enhancers	Fetal Muscle Leg	muscle
16	chr12:63076200-63081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:63077800-63080600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:63077800-63086600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:63077800-63095400	Weak transcription	Placenta	Placenta
20	chr12:63078000-63081000	Weak transcription	HSMMtube	muscle
21	chr12:63078000-63118600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:63078200-63081000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:63078200-63082600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:63078200-63083000	Weak transcription	A549	lung
25	chr12:63078200-63083200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:63078200-63087200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:63078200-63087200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:63078200-63091600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:63078600-63085000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:63078600-63085000	Weak transcription	Brain Angular Gyrus	brain
31	chr12:63078600-63085600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:63078600-63086000	Weak transcription	NH-A	brain
33	chr12:63078800-63081600	Enhancers	NHDF-Ad	bronchial
34	chr12:63078800-63082800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:63078800-63084000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:63078800-63086600	Weak transcription	Fetal Brain Male	brain
37	chr12:63078800-63087400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:63078800-63088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:63079000-63083000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:63079000-63087800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:63079000-63088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:63079000-63096400	Weak transcription	Ovary	ovary
43	chr12:63079200-63080600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:63079200-63081400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:63079200-63082000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:63079200-63082600	Weak transcription	Brain Anterior Caudate	brain
47	chr12:63079200-63082800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:63079200-63083000	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:63079200-63083000	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:63079200-63083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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