Variant report

Variant	rs9377045
Chromosome Location	chr6:147381317-147381318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147379302..147381093-chr6:147381317..147384144,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12209736	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1529016	0.87[CHB][hapmap]
rs1881660	0.88[CEU][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2256216	0.87[MEX][hapmap]
rs3734477	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4896903	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6570789	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6901138	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6910250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920096	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6920901	0.91[MEX][hapmap];0.84[TSI][hapmap]
rs6924131	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6930740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7749744	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7755338	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7767185	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7772651	0.87[CHB][hapmap]
rs9322088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322089	0.92[CEU][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9377043	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9377044	0.80[EUR][1000 genomes]
rs9386178	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9403845	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9485141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9497685	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9497690	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription 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	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9377045	SUMO4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147375600-147384400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:147377200-147381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:147377400-147381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:147377400-147385000	Weak transcription	Pancreas	Pancrea
5	chr6:147380000-147382800	Enhancers	HepG2	liver
6	chr6:147380400-147384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:147380400-147384600	Weak transcription	A549	lung
8	chr6:147380600-147384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:147380600-147384400	Weak transcription	K562	blood
10	chr6:147380600-147384400	Weak transcription	NHDF-Ad	bronchial
11	chr6:147381000-147381400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:147381000-147384600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:147381200-147382400	Enhancers	Fetal Brain Male	brain

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