Variant report

Variant	rs13281324
Chromosome Location	chr8:103440575-103440576
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103435300..103437498-chr8:103439905..103442249,2	K562	blood:
2	chr8:103438828..103441825-chr8:103444770..103446415,2	K562	blood:
3	chr8:103439421..103441100-chr8:103448054..103450571,2	MCF-7	breast:
4	chr8:103427417..103430213-chr8:103437783..103440651,2	MCF-7	breast:
5	chr8:103423416..103425186-chr8:103439057..103441485,2	MCF-7	breast:
6	chr8:103422249..103427924-chr8:103438177..103442198,4	K562	blood:

Variant related genes	Relation type
ENSG00000253923	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10109588	0.80[ASN][1000 genomes]
rs12114277	0.86[CHD][hapmap];0.81[GIH][hapmap]
rs13248227	0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13266369	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13269273	0.91[JPT][hapmap]
rs13270182	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs16869377	0.81[CHD][hapmap]
rs16869423	0.81[CHD][hapmap]
rs2293983	0.81[CHD][hapmap]
rs2607662	0.81[GIH][hapmap]
rs2607663	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2853232	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs2853236	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2853238	0.84[CHD][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap]
rs34300781	0.86[ASN][1000 genomes]
rs34620785	0.83[ASN][1000 genomes]
rs35065885	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736653	0.84[CHD][hapmap]
rs4269511	0.82[CHD][hapmap]
rs4495397	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4609174	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4617126	0.82[CHB][hapmap]
rs4621773	0.84[ASN][1000 genomes]
rs4734619	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4734621	0.87[ASN][1000 genomes]
rs62523126	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62523127	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468826	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs71209870	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7823262	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827839	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs7844250	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9642790	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9693239	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs9694458	0.87[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	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103430600-103444400	Weak transcription	GM12878-XiMat	blood
2	chr8:103438600-103449200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:103439400-103440600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:103439600-103440600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103439600-103440600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:103440200-103440600	Enhancers	Brain Substantia Nigra	brain
7	chr8:103440200-103440600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr8:103440200-103440600	Enhancers	K562	blood
9	chr8:103440400-103440600	Enhancers	Stomach Smooth Muscle	stomach
10	chr8:103440400-103442600	Weak transcription	HepG2	liver
11	chr8:103440400-103447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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