Variant report

Variant	rs1044670
Chromosome Location	chr6:56891979-56891980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56882958..56887865-chr6:56889010..56894345,6	K562	blood:
2	chr6:56824548..56826799-chr6:56889091..56892083,2	K562	blood:
3	chr6:56881940..56886581-chr6:56889010..56894702,6	K562	blood:
4	chr6:56890706..56893193-chr6:56903389..56905342,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10484410	0.88[CEU][hapmap];1.00[LWK][hapmap]
rs12201039	0.81[AFR][1000 genomes]
rs12214119	0.81[AFR][1000 genomes]
rs12214882	0.88[CEU][hapmap];1.00[LWK][hapmap];0.81[AFR][1000 genomes]
rs13193465	0.83[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs13207768	1.00[ASW][hapmap]
rs13207800	0.87[AMR][1000 genomes]
rs13220575	0.83[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1599280	1.00[ASW][hapmap];0.83[GIH][hapmap]
rs17619360	0.88[CEU][hapmap]
rs17685277	1.00[ASW][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
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]
rs2167460	0.86[TSI][hapmap]
rs2817573	0.83[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
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]
rs3800023	0.88[CEU][hapmap]
rs3957366	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.81[TSI][hapmap];0.91[AFR][1000 genomes]
rs41267681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6459178	0.88[CEU][hapmap]
rs6901944	0.83[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes]
rs6918222	0.91[AFR][1000 genomes]
rs6936560	0.82[AFR][1000 genomes]
rs71564872	0.90[AMR][1000 genomes]
rs720884	1.00[ASW][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes]
rs7756421	0.88[CEU][hapmap]
rs7760385	0.84[AMR][1000 genomes]
rs7771115	0.88[CEU][hapmap]

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
rs1044670	BEND6	cis	cerebellum	SCAN
rs1044670	BEND6	cis	Muscle Skeletal	GTEx
rs1044670	RAB23	cis	multi-tissue	Pritchard
rs1044670	BEND6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56878600-56905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:56886000-56894000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:56886400-56893200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:56888200-56892000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:56890000-56892000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:56890600-56893800	Weak transcription	Brain Substantia Nigra	brain
7	chr6:56890600-56894800	Weak transcription	NHDF-Ad	bronchial
8	chr6:56890800-56893400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:56891000-56893200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:56891000-56894000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:56891200-56896200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:56891400-56893000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:56891400-56893000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:56891400-56893400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:56891800-56892000	Enhancers	HepG2	liver
16	chr6:56891800-56896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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