Variant report

Variant	rs34812189
Chromosome Location	chr6:56806727-56806728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56806693..56808655-chr6:56819692..56822183,2	K562	blood:

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1020548	0.86[AMR][1000 genomes]
rs13193465	0.86[AMR][1000 genomes]
rs13193800	0.86[AMR][1000 genomes]
rs13198484	0.86[AMR][1000 genomes]
rs13212013	0.86[AMR][1000 genomes]
rs13214032	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs13214255	0.86[AMR][1000 genomes]
rs13215865	0.86[AFR][1000 genomes]
rs13218276	0.86[AMR][1000 genomes]
rs13220510	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1451707	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1451708	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1460561	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1599280	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1599281	0.90[EUR][1000 genomes]
rs17450853	0.90[EUR][1000 genomes]
rs17685143	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17685185	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17685277	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17685338	0.86[AFR][1000 genomes]
rs17685380	0.86[AFR][1000 genomes]
rs17752412	0.90[EUR][1000 genomes]
rs17752435	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752459	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1903330	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2613119	0.86[AMR][1000 genomes]
rs2817573	0.86[AMR][1000 genomes]
rs28360536	0.86[AMR][1000 genomes]
rs28360537	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs28360538	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34009699	0.86[AFR][1000 genomes]
rs34027274	0.86[AFR][1000 genomes]
rs34232358	0.86[AFR][1000 genomes]
rs34259328	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34399458	0.86[AFR][1000 genomes]
rs34616943	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs34714091	0.86[AFR][1000 genomes]
rs34733863	0.86[AFR][1000 genomes]
rs34752771	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35202312	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35434542	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35527216	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35860642	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35961728	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36112505	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4490669	0.90[EUR][1000 genomes]
rs55786720	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55952713	0.86[AMR][1000 genomes]
rs56030203	0.88[EUR][1000 genomes]
rs56381984	0.86[AMR][1000 genomes]
rs58338781	0.89[EUR][1000 genomes]
rs61340009	0.90[EUR][1000 genomes]
rs6904924	0.86[AMR][1000 genomes]
rs6906623	0.86[AMR][1000 genomes]
rs6907143	0.86[AMR][1000 genomes]
rs71550519	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71564866	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71564868	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71564869	0.86[AMR][1000 genomes]
rs71564870	0.86[AMR][1000 genomes]
rs720884	0.86[AFR][1000 genomes]
rs748996	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7760385	0.86[AFR][1000 genomes]
rs9475752	0.90[EUR][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	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	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34812189	BEND6	cis	Artery Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56804200-56813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:56804200-56818000	Weak transcription	HSMM	muscle
3	chr6:56804400-56813600	Weak transcription	A549	lung
4	chr6:56804400-56814600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:56804400-56815800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:56805600-56806800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:56805600-56807000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:56805600-56807000	ZNF genes & repeats	NHDF-Ad	bronchial
9	chr6:56806200-56806800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:56806200-56806800	ZNF genes & repeats	Osteobl	bone
11	chr6:56806200-56807000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:56806400-56807000	ZNF genes & repeats	NHLF	lung
13	chr6:56806600-56812400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:56806600-56817800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:56806600-56818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:56806600-56818400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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