Variant report

Variant	nsv973056
Chromosome Location	chr12:42480091-42481599
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:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42480575..42482340-chr12:42486145..42488403,2	K562	blood:
2	chr12:42480575..42482841-chr12:42486145..42488403,3	K562	blood:
3	chr12:42475577..42477136-chr12:42480069..42481617,2	K562	blood:
4	chr12:42471227..42474055-chr12:42478487..42480397,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GXYLT1	hsa-miR-124-3p	chr12:42481080-42481099
2	GXYLT1	hsa-miR-124-3p	chr12:42481086-42481080

Variant related genes	Relation type
ENSG00000222884	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189194933	chr12:42480136-42480137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555775610	chr12:42480137-42480138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549548272	chr12:42480148-42480149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12427425	chr12:42480194-42480195	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113017852	chr12:42480215-42480216	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542137675	chr12:42480236-42480237	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369349100	chr12:42480260-42480261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192863205	chr12:42480287-42480288	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143973913	chr12:42480290-42480291	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147743416	chr12:42480309-42480310	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545980875	chr12:42480314-42480315	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368503715	chr12:42480321-42480322	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184505594	chr12:42480372-42480373	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531479918	chr12:42480441-42480442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549602184	chr12:42480457-42480458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568080350	chr12:42480469-42480470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142600234	chr12:42480473-42480474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548089808	chr12:42480475-42480476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113936476	chr12:42480563-42480564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111355881	chr12:42480567-42480568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546902087	chr12:42480603-42480604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17602639	chr12:42480604-42480605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2131213	chr12:42480615-42480616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191522251	chr12:42480645-42480646	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557881968	chr12:42480694-42480695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184006105	chr12:42480752-42480753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143404022	chr12:42480760-42480761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537587813	chr12:42480764-42480765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372484243	chr12:42480767-42480768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140739389	chr12:42480798-42480799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201458134	chr12:42480819-42480820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574001237	chr12:42480836-42480837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541033950	chr12:42480838-42480839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78261687	chr12:42480866-42480867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs824721	chr12:42480890-42480891	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189071151	chr12:42480920-42480921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180958879	chr12:42480975-42480976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529546119	chr12:42480985-42480986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74912737	chr12:42481047-42481048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112151962	chr12:42481053-42481054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73125998	chr12:42481057-42481058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550908580	chr12:42481061-42481062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78277437	chr12:42481083-42481084	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
44	rs75263558	chr12:42481093-42481094	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
45	rs187123116	chr12:42481101-42481102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190740772	chr12:42481112-42481113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528897028	chr12:42481154-42481155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200079903	chr12:42481178-42481179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577367179	chr12:42481211-42481212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371617076	chr12:42481221-42481222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42464600-42484000	Weak transcription	HSMM	muscle
2	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
3	chr12:42469400-42491800	Weak transcription	Ovary	ovary
4	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
8	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:42471200-42483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:42471800-42483400	Weak transcription	Fetal Stomach	stomach
12	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
14	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:42473400-42480200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:42473600-42481000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:42473600-42483600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:42473600-42484000	Weak transcription	HUVEC	blood vessel
20	chr12:42473600-42484200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:42473800-42484000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:42474000-42484000	Weak transcription	NH-A	brain
23	chr12:42474000-42484200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
25	chr12:42474200-42484000	Weak transcription	Osteobl	bone
26	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
27	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:42474400-42480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:42474600-42480600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:42474600-42482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
34	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:42475000-42484200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
39	chr12:42475400-42485600	Weak transcription	Left Ventricle	heart
40	chr12:42476000-42485600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:42476000-42524400	Weak transcription	Gastric	stomach
42	chr12:42476200-42480800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:42476200-42487000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
45	chr12:42476400-42481200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:42476400-42482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:42476400-42487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:42476400-42487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:42476400-42489800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix

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