Variant report

Variant	rs521812
Chromosome Location	chr5:80295105-80295106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80293956..80295842-chr5:80296253..80298015,2	K562	blood:
2	chr5:80284586..80286843-chr5:80294142..80297037,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs481785	0.83[ASN][1000 genomes]
rs483970	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499090	0.87[ASN][1000 genomes]
rs501544	0.83[ASN][1000 genomes]
rs516660	0.80[ASN][1000 genomes]
rs533308	0.80[ASN][1000 genomes]
rs535083	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538957	0.80[ASN][1000 genomes]
rs539809	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565834	0.80[ASN][1000 genomes]
rs569262	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570858	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572572	0.82[ASN][1000 genomes]
rs577470	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv830360	chr5:80283278-80446040	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv4897	chr5:80284196-80330223	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80285000-80295800	Weak transcription	Left Ventricle	heart
2	chr5:80286600-80299600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:80286800-80299800	Weak transcription	Brain Angular Gyrus	brain
4	chr5:80287200-80295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:80287200-80299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:80288000-80299600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:80288200-80295800	Weak transcription	Right Ventricle	heart
8	chr5:80288200-80300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:80288400-80297000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:80288800-80296800	Weak transcription	Brain Substantia Nigra	brain
11	chr5:80288800-80299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:80291400-80295200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:80291400-80302400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:80292200-80299800	Weak transcription	HepG2	liver
15	chr5:80292400-80296000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:80292600-80296000	Enhancers	Fetal Thymus	thymus
17	chr5:80294000-80295200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr5:80294600-80299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:80294800-80295400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:80294800-80295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:80294800-80295800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:80294800-80296200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:80294800-80298000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:80294800-80299600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:80294800-80299600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:80294800-80299800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:80294800-80299800	Weak transcription	Right Atrium	heart
28	chr5:80294800-80299800	Weak transcription	Thymus	Thymus
29	chr5:80294800-80302400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:80295000-80297000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:80295000-80297200	Enhancers	Primary T cells from cord blood	blood
32	chr5:80295000-80299800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:80295000-80300000	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links