Variant report

Variant	rs73530548
Chromosome Location	chr8:11025683-11025684
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17152953	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs3736014	0.82[ASN][1000 genomes]
rs57827662	0.90[ASN][1000 genomes]
rs58152481	0.90[ASN][1000 genomes]
rs59757809	0.90[ASN][1000 genomes]
rs60088021	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60863755	0.90[ASN][1000 genomes]
rs61063469	0.90[ASN][1000 genomes]
rs7008658	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7010256	0.90[ASN][1000 genomes]
rs73530504	0.82[ASN][1000 genomes]
rs73530510	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73530511	0.90[ASN][1000 genomes]
rs73530513	0.90[ASN][1000 genomes]
rs73530517	0.90[ASN][1000 genomes]
rs73530522	0.90[ASN][1000 genomes]
rs73530525	0.90[ASN][1000 genomes]
rs73530550	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73530555	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73530560	1.00[ASN][1000 genomes]
rs73547429	0.90[ASN][1000 genomes]
rs73547452	0.90[ASN][1000 genomes]
rs73547456	0.90[ASN][1000 genomes]
rs7819338	0.90[ASN][1000 genomes]
rs7840926	0.90[ASN][1000 genomes]
rs7845493	0.82[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv519941	chr8:11016889-11039816	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:11006800-11026200	Weak transcription	HSMM	muscle
3	chr8:11013400-11026400	Weak transcription	Esophagus	oesophagus
4	chr8:11013600-11028800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:11016600-11032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:11021800-11026200	Weak transcription	Pancreas	Pancrea
7	chr8:11021800-11026400	Weak transcription	Gastric	stomach
8	chr8:11022000-11026000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:11022000-11026400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:11022600-11026000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr8:11022600-11035000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:11023000-11026000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:11024400-11029200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:11024800-11025800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:11024800-11026000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:11024800-11028800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr8:11025000-11026600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:11025200-11026000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:11025400-11026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:11025400-11026800	Enhancers	HUVEC	blood vessel
21	chr8:11025600-11025800	Flanking Active TSS	HSMMtube	muscle
22	chr8:11025600-11026600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:11025600-11026800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:11025600-11026800	Enhancers	NH-A	brain
25	chr8:11025600-11028800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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