Variant report

Variant	rs12592361
Chromosome Location	chrX:102046999-102047000
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11855094	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1402171	0.84[ASN][1000 genomes]
rs1477588	0.84[ASN][1000 genomes]
rs16976890	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863425	0.85[ASN][1000 genomes]
rs1946364	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1961489	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1991266	0.85[ASN][1000 genomes]
rs2098897	0.84[ASN][1000 genomes]
rs2114185	0.85[ASN][1000 genomes]
rs2162217	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2162218	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2217059	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2465968	0.85[ASN][1000 genomes]
rs2554284	0.84[ASN][1000 genomes]
rs2554285	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2554287	0.84[ASN][1000 genomes]
rs2554288	0.83[ASN][1000 genomes]
rs2682013	0.84[ASN][1000 genomes]
rs2682016	0.82[ASN][1000 genomes]
rs2682017	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682024	0.85[ASN][1000 genomes]
rs2682025	0.85[ASN][1000 genomes]
rs2682026	0.85[ASN][1000 genomes]
rs2682029	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682038	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682041	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2713899	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2713910	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2713919	0.85[ASN][1000 genomes]
rs2713921	0.85[ASN][1000 genomes]
rs2718904	0.85[ASN][1000 genomes]
rs2718910	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2718914	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2718921	0.83[ASN][1000 genomes]
rs2718922	0.84[ASN][1000 genomes]
rs2718923	0.84[ASN][1000 genomes]
rs2725840	0.84[EUR][1000 genomes]
rs2725850	0.83[ASN][1000 genomes]
rs2725851	0.84[ASN][1000 genomes]
rs2725852	0.84[ASN][1000 genomes]
rs2725853	0.84[ASN][1000 genomes]
rs2725855	0.83[ASN][1000 genomes]
rs2725856	0.84[ASN][1000 genomes]
rs2725857	0.84[ASN][1000 genomes]
rs2725859	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2725861	0.85[ASN][1000 genomes]
rs2725863	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2725864	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28836203	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2912185	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35357024	0.80[EUR][1000 genomes]
rs3985759	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774856	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6493855	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7173861	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7181235	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7182758	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs795786	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs795791	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs795797	0.82[ASN][1000 genomes]
rs795800	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv529948	chrX:101773567-102121779	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv526716	chrX:101837733-102189310	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv3369607	chrX:101922037-102048993	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:102024800-102077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chrX:102025200-102048400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chrX:102025400-102053200	Weak transcription	A549	lung
4	chrX:102025400-102081600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chrX:102042200-102052400	Weak transcription	Primary hematopoietic stem cells	blood

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