Variant report

Variant	rs4561947
Chromosome Location	chr4:147299220-147299221
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147277196..147280652-chr4:147297351..147300192,3	K562	blood:
2	chr4:147298326..147300509-chr4:147303164..147305825,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519784	0.83[CHB][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes]
rs10519786	0.83[CHB][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes]
rs10519805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16998677	0.88[AMR][1000 genomes]
rs17021340	0.83[CHB][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes]
rs17021345	0.83[CHB][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes]
rs17021355	0.80[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[AMR][1000 genomes]
rs17021362	0.80[CEU][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes]
rs17021365	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs17021409	0.80[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2291379	0.88[AMR][1000 genomes]
rs57305184	0.88[AMR][1000 genomes]
rs58203372	0.92[AMR][1000 genomes]
rs58738547	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58800297	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58997046	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59524631	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59758996	0.88[AMR][1000 genomes]
rs59811977	0.88[AMR][1000 genomes]
rs59890707	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59916828	0.92[AMR][1000 genomes]
rs59937090	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60175042	0.92[AMR][1000 genomes]
rs60862748	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61016468	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61219941	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
2	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:147291800-147300400	Weak transcription	Stomach Mucosa	stomach
4	chr4:147296400-147300200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:147298600-147302400	Weak transcription	GM12878-XiMat	blood
6	chr4:147299200-147300400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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