Variant report

Variant	nsv983337
Chromosome Location	chr12:63167541-63169131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63164373..63167364-chr12:63168483..63171041,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77290048	chr12:63167541-63167542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs163684	chr12:63167606-63167607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs386763627	chr12:63167735-63167736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74098847	chr12:63167737-63167738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141738334	chr12:63167744-63167745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529948395	chr12:63167750-63167751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184639456	chr12:63167751-63167752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189303760	chr12:63167783-63167784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532156389	chr12:63167797-63167798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75224811	chr12:63167798-63167799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7302870	chr12:63167799-63167800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368075164	chr12:63167803-63167804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534666164	chr12:63167819-63167820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12303297	chr12:63167820-63167821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77858227	chr12:63167837-63167838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537787080	chr12:63167847-63167848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557665109	chr12:63167859-63167860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7303135	chr12:63167864-63167865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs78377727	chr12:63167876-63167877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12303313	chr12:63167893-63167894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148140528	chr12:63167941-63167942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12303266	chr12:63167945-63167946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs561790045	chr12:63167947-63167948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575233010	chr12:63167974-63167975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543344009	chr12:63167979-63167980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563229183	chr12:63168025-63168026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532243323	chr12:63168072-63168073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568746617	chr12:63168076-63168077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141976390	chr12:63168102-63168103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35398236	chr12:63168144-63168145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60602806	chr12:63168145-63168146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370833813	chr12:63168150-63168151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181930432	chr12:63168154-63168155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528212568	chr12:63168168-63168169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548263137	chr12:63168169-63168170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557345703	chr12:63168206-63168207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568089023	chr12:63168211-63168212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76746639	chr12:63168228-63168229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184426059	chr12:63168244-63168245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150275701	chr12:63168252-63168253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540078499	chr12:63168257-63168258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553301574	chr12:63168318-63168319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567046020	chr12:63168322-63168323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12310630	chr12:63168323-63168324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs163685	chr12:63168333-63168334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575271720	chr12:63168388-63168389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149253098	chr12:63168453-63168454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146209619	chr12:63168527-63168528	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs337519	chr12:63168607-63168608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189122466	chr12:63168628-63168629	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63140000-63168600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:63145800-63169400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:63150000-63179800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:63153600-63171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:63156000-63168000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:63158200-63167600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:63161200-63168200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
9	chr12:63161800-63167600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:63161800-63179400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:63162000-63170400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:63162200-63174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:63163200-63168200	Weak transcription	HepG2	liver
14	chr12:63163400-63167600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:63163600-63178400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:63163800-63175000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:63164600-63167600	Weak transcription	Stomach Mucosa	stomach
18	chr12:63164600-63175200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:63164800-63168000	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:63164800-63170400	Weak transcription	Gastric	stomach
21	chr12:63164800-63177200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:63164800-63177600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:63164800-63177800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:63165600-63182000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:63166000-63177200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:63166400-63167800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:63166400-63170400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:63166400-63171000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:63166600-63175400	Weak transcription	A549	lung
30	chr12:63166600-63177800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:63166600-63179600	Weak transcription	NHLF	lung
32	chr12:63166800-63168400	Enhancers	Left Ventricle	heart
33	chr12:63167000-63177800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:63167200-63168000	Enhancers	Small Intestine	intestine
35	chr12:63167400-63167600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:63167400-63167600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:63167400-63167800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:63167400-63168200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:63167400-63168200	Enhancers	Fetal Intestine Small	intestine
40	chr12:63167600-63167800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:63167600-63168000	Enhancers	Fetal Intestine Large	intestine
42	chr12:63167600-63168000	Enhancers	Stomach Mucosa	stomach
43	chr12:63167600-63168400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:63167600-63171000	Weak transcription	Pancreas	Pancrea
45	chr12:63167800-63174800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:63167800-63177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:63168000-63169200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:63168000-63169200	Enhancers	Fetal Muscle Leg	muscle
49	chr12:63168000-63170200	Weak transcription	Fetal Intestine Large	intestine
50	chr12:63168200-63168400	Enhancers	Fetal Muscle Trunk	muscle

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