Variant report

Variant	rs325216
Chromosome Location	chr5:98181722-98181723
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	chr5:98176104..98178809-chr5:98181543..98183254,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10044680	1.00[EUR][1000 genomes]
rs10045317	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10046011	1.00[EUR][1000 genomes]
rs10060286	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13358830	1.00[EUR][1000 genomes]
rs1382336	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1421635	1.00[EUR][1000 genomes]
rs161743	1.00[EUR][1000 genomes]
rs162139	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162141	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162142	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162143	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162157	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs162160	1.00[EUR][1000 genomes]
rs162161	0.80[AFR][1000 genomes]
rs162162	1.00[EUR][1000 genomes]
rs170579	1.00[EUR][1000 genomes]
rs17166198	1.00[EUR][1000 genomes]
rs17166210	1.00[EUR][1000 genomes]
rs17166218	1.00[EUR][1000 genomes]
rs17166224	1.00[EUR][1000 genomes]
rs17166397	1.00[EUR][1000 genomes]
rs17166450	1.00[EUR][1000 genomes]
rs17166454	1.00[EUR][1000 genomes]
rs179175	1.00[EUR][1000 genomes]
rs1828171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28782775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325198	1.00[EUR][1000 genomes]
rs325210	0.98[AFR][1000 genomes]
rs327801	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs327802	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs327805	1.00[EUR][1000 genomes]
rs451883	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57969582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59156696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61578983	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6870416	1.00[EUR][1000 genomes]
rs6891520	1.00[EUR][1000 genomes]
rs73151499	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73153514	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73153532	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155421	1.00[EUR][1000 genomes]
rs73155423	1.00[EUR][1000 genomes]
rs7727696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr5:98175600-98190000	Weak transcription	HUVEC	blood vessel
2	chr5:98175800-98190600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:98180200-98213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:98180800-98195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:98181000-98182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:98181400-98182200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:98181400-98190200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:98181600-98181800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:98181600-98182400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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