Variant report

Variant	rs2330089
Chromosome Location	chr5:43208477-43208478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12655504	0.80[ASN][1000 genomes]
rs1670796	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2444779	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4866811	0.82[ASN][1000 genomes]
rs57412930	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59733223	0.80[ASN][1000 genomes]
rs62368886	0.80[AMR][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
rs2330089	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:43196400-43208800	Weak transcription	Brain Angular Gyrus	brain
5	chr5:43196400-43208800	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:43196400-43208800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:43196400-43209200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:43198600-43208800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:43203600-43208600	Weak transcription	Stomach Mucosa	stomach
10	chr5:43203600-43208800	Weak transcription	K562	blood
11	chr5:43205200-43211000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:43205600-43215000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:43207200-43209000	Enhancers	NHDF-Ad	bronchial
14	chr5:43207200-43209600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:43207400-43209600	Enhancers	NHLF	lung
16	chr5:43207600-43209400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:43207600-43209400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:43207600-43209600	Enhancers	HSMMtube	muscle
19	chr5:43207800-43209000	Enhancers	Osteobl	bone
20	chr5:43207800-43209200	Enhancers	NHEK	skin
21	chr5:43207800-43209400	Enhancers	HMEC	breast
22	chr5:43208000-43209000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:43208000-43209400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:43208000-43214200	Enhancers	Placenta	Placenta
25	chr5:43208400-43208800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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