Variant report

Variant	rs4349580
Chromosome Location	chr4:47473173-47473174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47472104..47474705-chr4:47476405..47478497,2	K562	blood:
2	chr4:47468877..47471001-chr4:47471871..47473913,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10938485	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10938486	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11729677	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12645143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103660	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115740	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13129226	0.96[EUR][1000 genomes]
rs13140559	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409227	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589873	0.84[EUR][1000 genomes]
rs34096542	0.83[AMR][1000 genomes]
rs35143328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197130	0.96[EUR][1000 genomes]
rs35293354	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4070	0.96[EUR][1000 genomes]
rs4235149	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435723	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4510445	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4532215	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4585276	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694849	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4695233	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695234	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59268722	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6447553	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447554	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843791	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71611998	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7690580	1.00[CEU][hapmap]
rs9993271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9998984	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 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	chr4:47466000-47473200	Weak transcription	Placenta	Placenta
2	chr4:47466000-47475400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:47466200-47473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:47467800-47474000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:47470400-47473400	Enhancers	Osteobl	bone
6	chr4:47471200-47487000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:47471800-47473400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:47471800-47473400	Enhancers	NHEK	skin
9	chr4:47472000-47473400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:47472000-47473400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:47472800-47473600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:47473000-47473400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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