Variant report

Variant	nsv498794
Chromosome Location	chr12:64399408-64405869
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64394276..64396120-chr12:64400937..64402998,2	MCF-7	breast:
2	chr12:64403525..64404317-chr12:64474787..64475607,3	MCF-7	breast:
3	chr12:64397033..64398653-chr12:64402137..64404710,2	K562	blood:
4	chr12:64402701..64405332-chr12:64614473..64617172,2	MCF-7	breast:
5	chr12:64262850..64264983-chr12:64404690..64407382,2	MCF-7	breast:
6	chr12:64236584..64241512-chr12:64401758..64407787,10	MCF-7	breast:
7	chr12:64386194..64388353-chr12:64398792..64400563,2	MCF-7	breast:
8	chr12:64257643..64259888-chr12:64403526..64405520,2	MCF-7	breast:
9	chr12:64237205..64239783-chr12:64397921..64400316,2	MCF-7	breast:
10	chr12:64236732..64239854-chr12:64401083..64405979,5	MCF-7	breast:
11	chr12:64401735..64404155-chr12:64409060..64411714,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174206	chromatin interactions
ENSG00000243024	chromatin interactions
ENSG00000196935	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550106812	chr12:64399438-64399439	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377282447	chr12:64399440-64399441	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551471462	chr12:64399443-64399444	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552511169	chr12:64399451-64399452	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565738225	chr12:64399452-64399453	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571361550	chr12:64399516-64399517	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12311284	chr12:64399560-64399561	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144758239	chr12:64399573-64399574	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533203714	chr12:64399624-64399625	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546471109	chr12:64399689-64399690	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147901407	chr12:64399709-64399710	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537323901	chr12:64399718-64399719	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4516057	chr12:64399731-64399732	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577082362	chr12:64399747-64399748	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141803735	chr12:64399761-64399762	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs370233311	chr12:64399762-64399763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74097508	chr12:64399765-64399766	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541169494	chr12:64399812-64399813	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73317377	chr12:64399831-64399832	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574519288	chr12:64399958-64399959	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543742317	chr12:64399977-64399978	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189712156	chr12:64400073-64400074	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532713762	chr12:64400086-64400087	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535404183	chr12:64400087-64400088	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546328590	chr12:64400090-64400091	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs180843047	chr12:64400166-64400167	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185829474	chr12:64400197-64400198	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117952952	chr12:64400198-64400199	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568049920	chr12:64400199-64400200	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143740278	chr12:64400247-64400248	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs118189134	chr12:64400256-64400257	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570679528	chr12:64400286-64400287	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73317379	chr12:64400313-64400314	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537793104	chr12:64400390-64400391	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566378024	chr12:64400414-64400415	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113144341	chr12:64400442-64400443	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554676665	chr12:64400471-64400472	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181785275	chr12:64400549-64400550	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201351802	chr12:64400559-64400560	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148170302	chr12:64400560-64400561	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557077944	chr12:64400577-64400578	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10784376	chr12:64400585-64400586	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190618239	chr12:64400588-64400589	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10784377	chr12:64400591-64400592	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs374369961	chr12:64400629-64400630	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528732589	chr12:64400635-64400636	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61931175	chr12:64400647-64400648	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561741624	chr12:64400690-64400691	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530527214	chr12:64400770-64400771	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550509606	chr12:64400796-64400797	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64377200-64400200	Weak transcription	Brain Germinal Matrix	brain
2	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:64383000-64401200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:64385000-64401000	Weak transcription	Ovary	ovary
8	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
9	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
10	chr12:64385200-64399600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:64385800-64399600	Weak transcription	NH-A	brain
12	chr12:64386600-64400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
14	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:64388800-64399800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:64388800-64400200	Weak transcription	Fetal Brain Male	brain
17	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
18	chr12:64389200-64400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
20	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
21	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:64391800-64401600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:64393400-64400000	Weak transcription	NHEK	skin
24	chr12:64394000-64400000	Weak transcription	NHLF	lung
25	chr12:64395400-64412400	Weak transcription	HMEC	breast
26	chr12:64395600-64400000	Weak transcription	Right Atrium	heart
27	chr12:64395600-64403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:64396000-64401200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:64396000-64415600	Weak transcription	Fetal Brain Female	brain
30	chr12:64396200-64399600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:64396200-64400000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:64396200-64400200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:64396400-64399600	Weak transcription	HSMMtube	muscle
34	chr12:64396400-64399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:64396400-64400000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:64396400-64400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:64396400-64414000	Weak transcription	Psoas Muscle	Psoas
38	chr12:64396600-64404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:64397200-64411200	Weak transcription	Fetal Intestine Small	intestine
40	chr12:64398000-64399600	Weak transcription	HSMM	muscle
41	chr12:64398000-64404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:64398000-64425200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:64398200-64404600	Enhancers	Osteobl	bone
44	chr12:64398200-64405000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:64398400-64400000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:64398800-64399600	Weak transcription	NHDF-Ad	bronchial
47	chr12:64398800-64400400	Weak transcription	A549	lung
48	chr12:64399000-64401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:64399400-64401600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:64399600-64400000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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