Variant report

Variant	rs6871636
Chromosome Location	chr5:43199867-43199868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43189592..43191167-chr5:43199369..43202364,2	K562	blood:
2	chr5:43196245..43198333-chr5:43198652..43200698,2	K562	blood:
3	chr5:43120857..43122477-chr5:43198085..43201200,3	K562	blood:
4	chr5:43192678..43195533-chr5:43199864..43203293,3	K562	blood:
5	chr5:43192678..43195316-chr5:43199864..43201452,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177453	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10041458	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044382	0.80[ASN][1000 genomes]
rs10044563	0.93[ASN][1000 genomes]
rs10058374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10070751	0.80[ASN][1000 genomes]
rs10074873	0.90[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10075647	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10078527	0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs10214190	0.82[ASN][1000 genomes]
rs10805667	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10941607	0.87[JPT][hapmap]
rs10941608	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs11740797	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11748187	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12109075	0.92[ASW][hapmap];0.83[CHD][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs13153462	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13173064	0.87[JPT][hapmap]
rs13665	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1532331	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1670791	0.88[ASN][1000 genomes]
rs17301375	0.94[JPT][hapmap]
rs316398	0.81[JPT][hapmap]
rs316405	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs316411	0.94[JPT][hapmap]
rs33910990	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35953019	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3733839	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs4498259	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[ASN][1000 genomes]
rs4866808	0.80[ASN][1000 genomes]
rs541143	0.93[JPT][hapmap]
rs6414900	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6451674	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6451675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs670206	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs67913249	0.99[ASN][1000 genomes]
rs6862639	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[ASN][1000 genomes]
rs6864955	0.80[ASN][1000 genomes]
rs6876746	0.80[ASN][1000 genomes]
rs6884303	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6894506	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs7701510	0.92[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs7704132	0.93[ASN][1000 genomes]
rs7709181	0.94[JPT][hapmap]
rs7716136	0.91[ASN][1000 genomes]
rs7729529	0.94[JPT][hapmap]
rs7730004	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

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
rs6871636	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43195000-43203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:43196400-43200600	Weak transcription	GM12878-XiMat	blood
6	chr5:43196400-43205000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:43196400-43208800	Weak transcription	Brain Angular Gyrus	brain
8	chr5:43196400-43208800	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:43196400-43208800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:43196400-43209200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:43198200-43200000	Enhancers	K562	blood
12	chr5:43198600-43208800	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links