Variant report

Variant	rs33910990
Chromosome Location	chr5:43196026-43196027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10041458	0.88[ASN][1000 genomes]
rs10044382	0.91[ASN][1000 genomes]
rs10044563	0.84[ASN][1000 genomes]
rs10058350	0.89[ASN][1000 genomes]
rs10058374	0.89[ASN][1000 genomes]
rs10070751	0.91[ASN][1000 genomes]
rs10074873	0.93[ASN][1000 genomes]
rs10075647	0.85[ASN][1000 genomes]
rs10214190	0.93[ASN][1000 genomes]
rs10805667	0.88[ASN][1000 genomes]
rs13153462	0.80[ASN][1000 genomes]
rs13176429	0.89[ASN][1000 genomes]
rs13665	0.91[ASN][1000 genomes]
rs1532330	0.88[ASN][1000 genomes]
rs1532331	0.88[ASN][1000 genomes]
rs35953019	0.90[ASN][1000 genomes]
rs4498259	0.91[ASN][1000 genomes]
rs479996	0.81[ASN][1000 genomes]
rs4866808	0.91[ASN][1000 genomes]
rs4866971	0.89[ASN][1000 genomes]
rs541143	0.83[ASN][1000 genomes]
rs6414900	0.89[ASN][1000 genomes]
rs6451674	0.88[ASN][1000 genomes]
rs6451675	0.88[ASN][1000 genomes]
rs67913249	0.90[ASN][1000 genomes]
rs6862639	0.91[ASN][1000 genomes]
rs6864955	0.91[ASN][1000 genomes]
rs6870418	0.88[ASN][1000 genomes]
rs6871636	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6876746	0.91[ASN][1000 genomes]
rs6884303	0.89[ASN][1000 genomes]
rs6894506	0.86[ASN][1000 genomes]
rs7704132	0.84[ASN][1000 genomes]
rs7712046	0.89[ASN][1000 genomes]
rs7716136	0.82[ASN][1000 genomes]
rs7723426	0.90[ASN][1000 genomes]
rs7730004	0.93[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
rs33910990	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 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	chr5:43194600-43196200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:43194600-43196400	Enhancers	Brain Hippocampus Middle	brain
7	chr5:43194600-43197000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:43194600-43197600	Weak transcription	NHEK	skin
9	chr5:43195000-43196200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:43195000-43203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
12	chr5:43195600-43196200	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr5:43195600-43196200	Active TSS	Fetal Brain Female	brain
14	chr5:43195600-43196400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:43195800-43196200	Active TSS	Brain Angular Gyrus	brain
16	chr5:43195800-43196200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr5:43195800-43196400	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:43196000-43196200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:43196000-43196200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:43196000-43196400	Enhancers	Brain Germinal Matrix	brain
21	chr5:43196000-43196400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr5:43196000-43199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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