Variant report

Variant	rs13164889
Chromosome Location	chr5:43196268-43196269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43196245..43198333-chr5:43198652..43200698,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1001717	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12654798	0.84[CHB][hapmap]
rs12659721	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs13160133	0.89[CEU][hapmap]
rs13163892	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13164183	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13169195	0.91[CEU][hapmap];1.00[MKK][hapmap]
rs13170322	1.00[MKK][hapmap]
rs13171253	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs13185037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13186549	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs16873177	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17242731	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17242995	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs17243023	1.00[ASW][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs17243086	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17243165	1.00[CHB][hapmap]
rs17243515	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];0.82[ASN][1000 genomes]
rs17302596	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17302931	1.00[ASW][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs17303482	0.88[TSI][hapmap]
rs2291632	0.92[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]
rs34810824	0.84[EUR][1000 genomes]
rs35397154	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs35764948	0.84[EUR][1000 genomes]
rs35839054	0.82[ASN][1000 genomes]
rs3752831	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs3752832	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3797306	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs3797307	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs3797308	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3797309	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs71627588	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627590	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71627591	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs878234	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13164889	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43194200-43197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:43194400-43197200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:43194400-43197200	Weak transcription	HMEC	breast
4	chr5:43194400-43197400	Weak transcription	K562	blood
5	chr5:43194600-43196400	Enhancers	Brain Hippocampus Middle	brain
6	chr5:43194600-43197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:43194600-43197600	Weak transcription	NHEK	skin
8	chr5:43195000-43203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
10	chr5:43195600-43196400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:43195800-43196400	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:43196000-43196400	Enhancers	Brain Germinal Matrix	brain
13	chr5:43196000-43196400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:43196000-43199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:43196200-43196400	Enhancers	Brain Angular Gyrus	brain
16	chr5:43196200-43196400	Active TSS	Brain Anterior Caudate	brain
17	chr5:43196200-43196400	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:43196200-43197200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links