Variant report

Variant	rs41267681
Chromosome Location	chr6:56881883-56881884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56880590..56882894-chr6:57036794..57039348,2	K562	blood:
2	chr6:56881789..56884377-chr6:57083895..57085876,2	K562	blood:
3	chr6:56879999..56883408-chr6:57181987..57184003,3	K562	blood:

Variant related genes	Relation type
ENSG00000146143	Chromatin interaction
ENSG00000112208	Chromatin interaction
ENSG00000226803	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1044670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12201039	0.81[AFR][1000 genomes]
rs12214119	0.81[AFR][1000 genomes]
rs12214882	0.81[AFR][1000 genomes]
rs13207800	0.87[AMR][1000 genomes]
rs13220575	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17685338	0.90[AMR][1000 genomes]
rs17685380	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2013674	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28360535	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34009699	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34027274	0.90[AMR][1000 genomes]
rs34399458	0.90[AMR][1000 genomes]
rs34979183	0.90[AMR][1000 genomes]
rs35090265	0.90[AMR][1000 genomes]
rs35336675	0.90[AMR][1000 genomes]
rs35605425	0.90[AMR][1000 genomes]
rs35735810	0.90[AMR][1000 genomes]
rs35899012	0.90[AMR][1000 genomes]
rs36124814	0.90[AMR][1000 genomes]
rs3957366	0.91[AFR][1000 genomes]
rs6901944	0.90[AMR][1000 genomes]
rs6918222	0.91[AFR][1000 genomes]
rs6936560	0.82[AFR][1000 genomes]
rs71564872	0.90[AMR][1000 genomes]
rs720884	0.90[AMR][1000 genomes]
rs7760385	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs41267681	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL
rs41267681	BEND6	cis	Muscle Skeletal	GTEx
rs41267681	BEND6	cis	Artery Tibial	GTEx
rs41267681	BEND6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56858600-56889400	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:56864600-56890200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:56878600-56885800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:56878600-56905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:56878800-56882200	Weak transcription	HSMMtube	muscle
6	chr6:56878800-56882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:56879000-56891600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:56879200-56882400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:56879200-56883800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:56880800-56888400	Weak transcription	Aorta	Aorta
11	chr6:56881200-56882200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:56881200-56882200	Enhancers	Fetal Lung	lung
13	chr6:56881600-56884200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links