Variant report

Variant	rs4911297
Chromosome Location	chr20:31657100-31657101
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	chr20:31642811..31645352-chr20:31655700..31657911,2	K562	blood:

Variant related genes	Relation type
ENSG00000186190	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13044428	0.85[ASN][1000 genomes]
rs1972199	0.83[ASN][1000 genomes]
rs2070322	0.82[ASN][1000 genomes]
rs2070324	0.81[ASN][1000 genomes]
rs2070325	0.82[ASN][1000 genomes]
rs2073325	0.85[ASN][1000 genomes]
rs2093067	0.84[ASN][1000 genomes]
rs2424940	0.85[AFR][1000 genomes]
rs2424942	0.85[ASN][1000 genomes]
rs2424945	0.82[ASN][1000 genomes]
rs2424946	0.82[ASN][1000 genomes]
rs2424947	0.82[ASN][1000 genomes]
rs2889732	0.82[ASN][1000 genomes]
rs372054	0.87[ASN][1000 genomes]
rs398444	0.87[ASN][1000 genomes]
rs4911290	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911291	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911292	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911293	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911295	1.00[ASN][1000 genomes]
rs4911296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6057715	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6057717	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6059052	0.81[AFR][1000 genomes]
rs6059058	0.81[AMR][1000 genomes]
rs6059067	0.90[ASN][1000 genomes]
rs6059069	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6087441	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6088082	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6088084	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6088085	0.93[ASN][1000 genomes]
rs6088091	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6141362	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6141876	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6141877	0.90[ASN][1000 genomes]
rs761935	0.87[ASN][1000 genomes]
rs761936	0.87[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	nsv1056411	chr20:31057037-31942835	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2758519	chr20:31495807-31748166	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758792	chr20:31495807-31748166	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:31650800-31658400	Weak transcription	Right Atrium	heart
2	chr20:31655000-31659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr20:31655200-31660000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr20:31655200-31660000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:31655600-31657400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:31656000-31657200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:31657000-31657400	Active TSS	Spleen	Spleen

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