Variant report

Variant	rs6057717
Chromosome Location	chr20:31656632-31656633
allele	C/G
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:
2	chr20:31654384..31656819-chr20:31660943..31662462,2	K562	blood:

Variant related genes	Relation type
ENSG00000186190	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1022676	0.84[CEU][hapmap]
rs11696307	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11696310	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11699009	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs11699448	0.84[JPT][hapmap]
rs11700200	0.84[JPT][hapmap]
rs13036385	0.83[JPT][hapmap]
rs13039811	0.84[JPT][hapmap]
rs13041016	0.84[JPT][hapmap]
rs13044428	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1547004	0.84[JPT][hapmap]
rs1972199	0.84[ASN][1000 genomes]
rs1972218	0.82[CEU][hapmap]
rs1998113	0.82[CEU][hapmap]
rs2024934	0.84[JPT][hapmap]
rs2057261	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2057262	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2070319	0.87[CEU][hapmap]
rs2070320	0.84[CEU][hapmap]
rs2070321	0.80[ASN][1000 genomes]
rs2070322	0.81[ASN][1000 genomes]
rs2070325	0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2070326	0.84[JPT][hapmap]
rs2070328	0.84[JPT][hapmap]
rs2073325	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2093067	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs221982	0.86[JPT][hapmap]
rs2424936	0.86[JPT][hapmap]
rs2424940	0.84[CHB][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes]
rs2424942	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2424945	0.92[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2424946	0.92[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2424947	0.92[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs2424953	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2424955	0.84[JPT][hapmap]
rs2889732	0.86[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs372054	0.88[ASN][1000 genomes]
rs398444	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs4339026	0.84[JPT][hapmap]
rs4911286	0.82[CEU][hapmap]
rs4911287	0.87[CEU][hapmap]
rs4911290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4911291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4911295	0.99[ASN][1000 genomes]
rs4911296	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4911297	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6057715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6059052	0.88[AFR][1000 genomes]
rs6059058	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6059067	0.90[ASN][1000 genomes]
rs6059069	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6059076	0.84[JPT][hapmap]
rs6059079	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs6087441	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6088082	0.86[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6088084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6088085	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs6088091	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6141362	0.87[CEU][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6141876	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6141877	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs7265752	0.84[JPT][hapmap]
rs761935	0.92[CHB][hapmap];0.88[ASN][1000 genomes]
rs761936	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs761938	0.84[JPT][hapmap]

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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:31643800-31657000	Weak transcription	Spleen	Spleen
2	chr20:31650800-31658400	Weak transcription	Right Atrium	heart
3	chr20:31655000-31659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:31655200-31660000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:31655200-31660000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:31655600-31656800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr20:31655600-31657400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:31656000-31657200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr20:31656200-31656800	Enhancers	Primary T helper cells fromperipheralblood	blood

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