Variant report

Variant	nsv438217
Chromosome Location	chr12:64401869-64403934
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	chr12:64401735..64404155-chr12:64409060..64411714,2	MCF-7	breast:
2	chr12:64402701..64405332-chr12:64614473..64617172,2	MCF-7	breast:
3	chr12:64236584..64241512-chr12:64401758..64407787,10	MCF-7	breast:
4	chr12:64257643..64259888-chr12:64403526..64405520,2	MCF-7	breast:
5	chr12:64394276..64396120-chr12:64400937..64402998,2	MCF-7	breast:
6	chr12:64397033..64398653-chr12:64402137..64404710,2	K562	blood:
7	chr12:64236732..64239854-chr12:64401083..64405979,5	MCF-7	breast:
8	chr12:64403525..64404317-chr12:64474787..64475607,3	MCF-7	breast:

No data

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

Extended variants
information (count: 58 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7967578	chr12:64401869-64401870	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144021984	chr12:64401878-64401879	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562679760	chr12:64401905-64401906	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148697958	chr12:64401941-64401942	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551576497	chr12:64402015-64402016	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570812978	chr12:64402022-64402023	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549299429	chr12:64402084-64402085	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539951373	chr12:64402091-64402092	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141369548	chr12:64402102-64402103	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs67076268	chr12:64402145-64402146	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372346765	chr12:64402147-64402148	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373332726	chr12:64402152-64402153	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112000397	chr12:64402227-64402228	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147421771	chr12:64402275-64402276	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569547936	chr12:64402344-64402345	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538026161	chr12:64402378-64402379	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575988907	chr12:64402481-64402482	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375762553	chr12:64402508-64402509	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs3930087	chr12:64402510-64402511	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113974734	chr12:64402515-64402516	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375733121	chr12:64402531-64402532	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144570536	chr12:64402586-64402587	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573327725	chr12:64402615-64402616	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75539137	chr12:64402648-64402649	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562613715	chr12:64402664-64402665	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs17099997	chr12:64402668-64402669	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544838768	chr12:64402670-64402671	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551379665	chr12:64402730-64402731	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs533462515	chr12:64402740-64402741	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs547144589	chr12:64402744-64402745	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs566857000	chr12:64402763-64402764	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs571346976	chr12:64402772-64402773	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs147915194	chr12:64402773-64402774	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs549378511	chr12:64402795-64402796	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142382469	chr12:64402803-64402804	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs527424563	chr12:64402953-64402954	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs533671640	chr12:64402957-64402958	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs553796691	chr12:64403053-64403054	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375347521	chr12:64403115-64403116	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs115251833	chr12:64403145-64403146	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs574162957	chr12:64403176-64403177	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs538537680	chr12:64403181-64403182	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs558059077	chr12:64403182-64403183	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs35650018	chr12:64403198-64403199	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs74850621	chr12:64403244-64403245	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs200288474	chr12:64403321-64403322	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs556487311	chr12:64403347-64403348	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs11397428	chr12:64403530-64403531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs398044413	chr12:64403537-64403538	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553484768	chr12:64403737-64403738	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64380200-64433000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:64382800-64432800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:64383800-64425400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:64384600-64404000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64385000-64408800	Weak transcription	Hela-S3	cervix
6	chr12:64385000-64425600	Weak transcription	Left Ventricle	heart
7	chr12:64386800-64403600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:64386800-64404200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:64388800-64429800	Weak transcription	Pancreas	Pancrea
10	chr12:64389400-64419200	Weak transcription	Fetal Kidney	kidney
11	chr12:64389400-64419200	Weak transcription	Fetal Lung	lung
12	chr12:64389600-64417400	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:64395400-64412400	Weak transcription	HMEC	breast
14	chr12:64395600-64403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:64396000-64415600	Weak transcription	Fetal Brain Female	brain
16	chr12:64396400-64414000	Weak transcription	Psoas Muscle	Psoas
17	chr12:64396600-64404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:64397200-64411200	Weak transcription	Fetal Intestine Small	intestine
19	chr12:64398000-64404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:64398000-64425200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:64398200-64404600	Enhancers	Osteobl	bone
22	chr12:64398200-64405000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:64399600-64402600	Enhancers	HSMM	muscle
24	chr12:64399600-64402800	Enhancers	HSMMtube	muscle
25	chr12:64399600-64403000	Enhancers	Fetal Heart	heart
26	chr12:64399600-64404600	Enhancers	NHDF-Ad	bronchial
27	chr12:64399600-64404800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:64399800-64404200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:64400000-64402200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:64400000-64405000	Enhancers	NHLF	lung
31	chr12:64400200-64403400	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:64400400-64418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:64400600-64402000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:64400600-64403200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:64400800-64407000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:64401000-64402000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:64401000-64402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:64401000-64404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64401200-64402000	Enhancers	NHEK	skin
40	chr12:64401200-64402200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:64401200-64402200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr12:64401400-64402000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:64401400-64402200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:64401400-64402600	Enhancers	A549	lung
45	chr12:64401400-64403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:64401400-64404600	Enhancers	NH-A	brain
47	chr12:64401400-64416000	Weak transcription	Ovary	ovary
48	chr12:64401600-64402000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:64401600-64402600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:64401800-64402600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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