Variant report

Variant	nsv558874
Chromosome Location	chr12:51217757-51218287
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	chr12:51218193..51220790-chr12:51416290..51419028,2	K562	blood:
2	chr12:50793039..50794712-chr12:51216768..51219272,2	K562	blood:
3	chr12:51216774..51221510-chr12:51379576..51384198,5	MCF-7	breast:
4	chr12:51216775..51221102-chr12:51419333..51421670,3	K562	blood:
5	chr12:51218097..51220673-chr12:51419291..51422139,4	MCF-7	breast:
6	chr12:51218257..51221554-chr12:51475850..51478812,3	MCF-7	breast:
7	chr12:51157232..51159790-chr12:51217662..51220370,4	MCF-7	breast:
8	chr12:51184951..51187491-chr12:51218198..51219760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	chromatin interactions
ENSG00000161813	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000110911	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181895903	chr12:51217760-51217761	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs77696350	chr12:51217788-51217789	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs540897183	chr12:51217851-51217852	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528006626	chr12:51217870-51217871	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554252401	chr12:51217925-51217926	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34086248	chr12:51217938-51217939	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs547658858	chr12:51217959-51217960	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs375148648	chr12:51217987-51217988	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs184664477	chr12:51218005-51218006	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs145462834	chr12:51218022-51218023	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs151071730	chr12:51218069-51218070	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs559520376	chr12:51218076-51218077	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs4768924	chr12:51218114-51218115	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs371533251	chr12:51218134-51218135	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs569779673	chr12:51218150-51218151	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531751159	chr12:51218262-51218263	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Seminomas	18059402	CNVD
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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:51205000-51228200	Weak transcription	Gastric	stomach
3	chr12:51208000-51219000	Weak transcription	Stomach Mucosa	stomach
4	chr12:51208400-51218800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:51208400-51219000	Weak transcription	HSMMtube	muscle
6	chr12:51208400-51219000	Weak transcription	NHLF	lung
7	chr12:51208600-51219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:51209800-51219000	Weak transcription	Fetal Kidney	kidney
9	chr12:51210200-51222000	Weak transcription	Esophagus	oesophagus
10	chr12:51210400-51217800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:51210400-51218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:51210400-51219000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:51210600-51219000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:51210600-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:51210600-51223400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:51210800-51218800	Weak transcription	HMEC	breast
17	chr12:51210800-51218800	Weak transcription	NHEK	skin
18	chr12:51211000-51218800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:51211000-51218800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:51211000-51218800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:51211000-51218800	Weak transcription	K562	blood
22	chr12:51211000-51219000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:51211000-51222000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:51211000-51222000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:51211800-51218600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:51212200-51218000	Weak transcription	HepG2	liver
27	chr12:51212200-51218800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:51212200-51218800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:51212200-51219000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:51212200-51219400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:51212200-51219400	Weak transcription	Aorta	Aorta
32	chr12:51212200-51219400	Weak transcription	Ovary	ovary
33	chr12:51212400-51218800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:51212400-51218800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:51212400-51219000	Weak transcription	A549	lung
36	chr12:51212400-51219600	Weak transcription	Fetal Lung	lung
37	chr12:51213000-51219000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:51213000-51219000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:51213200-51218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:51213200-51218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:51213200-51219000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:51213200-51219000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:51213200-51219000	Weak transcription	Thymus	Thymus
44	chr12:51213200-51219400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:51213200-51222200	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:51213400-51218600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:51213400-51219400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:51213400-51221800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:51213400-51222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:51213600-51218800	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links