Variant report

Variant	rs73567581
Chromosome Location	chr8:48492654-48492655
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48492450..48494081-chr8:48504159..48506029,2	K562	blood:
2	chr8:48492643..48494808-chr8:48494843..48497616,2	K562	blood:
3	chr8:48489348..48491815-chr8:48492654..48494861,2	K562	blood:

Variant related genes	Relation type
ENSG00000254065	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs57210767	1.00[AMR][1000 genomes]
rs57274985	1.00[AMR][1000 genomes]
rs57659543	1.00[AMR][1000 genomes]
rs58572522	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	1.00[AMR][1000 genomes]
rs59402950	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	1.00[AMR][1000 genomes]
rs60256648	1.00[AMR][1000 genomes]
rs61376238	1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565260	1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	1.00[AMR][1000 genomes]
rs73565273	1.00[AMR][1000 genomes]
rs73565275	1.00[AMR][1000 genomes]
rs73565280	1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	1.00[AMR][1000 genomes]
rs73567594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	1.00[AMR][1000 genomes]
rs73569212	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	1.00[AMR][1000 genomes]
rs73569224	1.00[AMR][1000 genomes]
rs73569227	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	1.00[AMR][1000 genomes]
rs73571454	1.00[AMR][1000 genomes]
rs73571459	1.00[AMR][1000 genomes]
rs73571460	1.00[AMR][1000 genomes]
rs73571462	1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	1.00[AMR][1000 genomes]
rs73571469	1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:48473000-48511400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:48479400-48496200	Weak transcription	Fetal Intestine Small	intestine
4	chr8:48480400-48503000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:48481000-48503200	Weak transcription	Dnd41	blood
6	chr8:48481200-48513600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:48481400-48494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:48486400-48506200	Weak transcription	Pancreas	Pancrea
9	chr8:48491400-48493000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr8:48492600-48494800	Weak transcription	Spleen	Spleen
11	chr8:48492600-48496200	Weak transcription	Psoas Muscle	Psoas
12	chr8:48492600-48496400	Weak transcription	Left Ventricle	heart

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