Variant report

Variant	rs13439171
Chromosome Location	chr8:9167824-9167825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9161635..9164243-chr8:9166726..9169723,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10091555	0.89[EUR][1000 genomes]
rs10093897	1.00[ASN][1000 genomes]
rs10503385	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11249915	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12155604	0.84[EUR][1000 genomes]
rs12155605	0.84[EUR][1000 genomes]
rs12156035	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13439686	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659068	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17659159	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17659866	0.91[EUR][1000 genomes]
rs17660164	0.89[EUR][1000 genomes]
rs17660611	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17716095	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17716678	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2054346	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2054347	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2054348	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28607267	0.82[EUR][1000 genomes]
rs3932954	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56176083	1.00[ASN][1000 genomes]
rs6982301	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989012	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6989928	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6990709	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6993236	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6994507	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7009542	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73199700	1.00[ASN][1000 genomes]
rs922269	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9650631	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv526001	chr8:9164726-9167865	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9153200-9174600	Weak transcription	Right Atrium	heart
2	chr8:9161000-9168600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:9161200-9171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:9162400-9168000	Weak transcription	Left Ventricle	heart
5	chr8:9162600-9168000	Weak transcription	Fetal Heart	heart
6	chr8:9164600-9169800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:9164800-9169800	Weak transcription	NHEK	skin
8	chr8:9165600-9174200	Weak transcription	Psoas Muscle	Psoas
9	chr8:9167600-9169000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:9167600-9175000	Enhancers	Liver	Liver
11	chr8:9167800-9168400	Enhancers	Fetal Intestine Large	intestine
12	chr8:9167800-9170200	Enhancers	Skeletal Muscle Male	skeletal muscle

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