Variant report

Variant	rs56363479
Chromosome Location	chr14:73003466-73003467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2238170	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2238172	0.90[ASN][1000 genomes]
rs2238173	0.90[ASN][1000 genomes]
rs56255322	0.95[ASN][1000 genomes]
rs8004385	0.80[ASN][1000 genomes]
rs8006770	1.00[AMR][1000 genomes];0.95[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72997400-73003600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:72997600-73003800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:72997800-73004000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:72998200-73003800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr14:72999400-73009600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:73000200-73010000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr14:73000200-73010000	Weak transcription	Right Ventricle	heart
9	chr14:73000600-73004200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:73000800-73007800	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:73001000-73003600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:73001000-73003600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr14:73001000-73003800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:73001200-73003600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:73001400-73003800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:73001600-73003600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr14:73001600-73003800	Enhancers	Fetal Thymus	thymus
18	chr14:73002200-73009800	Weak transcription	Brain Substantia Nigra	brain
19	chr14:73002400-73003800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:73002800-73004000	Enhancers	Primary B cells from cord blood	blood
21	chr14:73003000-73004000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr14:73003000-73010800	Weak transcription	Fetal Brain Female	brain
23	chr14:73003200-73004000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr14:73003400-73003600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr14:73003400-73004000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:73003400-73004200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:73003400-73005000	Weak transcription	Fetal Stomach	stomach
28	chr14:73003400-73011000	Weak transcription	Spleen	Spleen

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