Variant report

Variant	rs7032
Chromosome Location	chr12:30862653-30862654
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30860811..30862985-chr12:30865141..30866984,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CAPRIN2	hsa-miR-93-5p	chr12:30862640-30862664
2	CAPRIN2	hsa-miR-340-5p	chr12:30862637-30862663

Variant related genes	Relation type
CAPRIN2	miRNA target site

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7302606	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
4	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
5	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
6	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
9	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
10	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:30853400-30862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:30853600-30862800	Weak transcription	Fetal Stomach	stomach
13	chr12:30853800-30867000	Weak transcription	Esophagus	oesophagus
14	chr12:30854200-30862800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:30854400-30862800	Weak transcription	NHDF-Ad	bronchial
16	chr12:30854600-30862800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:30854600-30867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:30856200-30862800	Weak transcription	Spleen	Spleen
19	chr12:30857400-30862800	Weak transcription	Fetal Lung	lung
20	chr12:30857400-30881800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:30858000-30862800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:30858000-30865800	Weak transcription	Hela-S3	cervix
23	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
24	chr12:30858800-30862800	Weak transcription	Fetal Thymus	thymus
25	chr12:30858800-30865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:30858800-30866600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:30858800-30868600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:30859000-30869400	Weak transcription	K562	blood
29	chr12:30859200-30863000	Weak transcription	Placenta	Placenta
30	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:30859400-30862800	Weak transcription	Gastric	stomach
32	chr12:30859400-30863000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:30859400-30883400	Weak transcription	Colonic Mucosa	Colon
34	chr12:30859600-30864200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:30859800-30877000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:30860000-30865600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:30860000-30865800	Weak transcription	Fetal Kidney	kidney
38	chr12:30860200-30866200	Weak transcription	Fetal Intestine Large	intestine
39	chr12:30860200-30871200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:30860400-30865600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:30860400-30881600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:30860600-30862800	Weak transcription	GM12878-XiMat	blood
43	chr12:30860600-30862800	Weak transcription	HUVEC	blood vessel
44	chr12:30860600-30863000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:30860800-30862800	Weak transcription	Thymus	Thymus
46	chr12:30860800-30866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:30861000-30879000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:30861200-30863000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:30861200-30871400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:30861200-30875000	Weak transcription	Primary monocytes fromperipheralblood	blood

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