Variant report

Variant	rs12730963
Chromosome Location	chr1:175342485-175342486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10489319	0.93[ASN][1000 genomes]
rs10489320	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12742766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12758737	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13374046	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16848329	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981473	0.93[ASN][1000 genomes]
rs2236886	0.93[ASN][1000 genomes]
rs2239818	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2282731	0.91[ASN][1000 genomes]
rs2301430	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301433	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2901906	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34257437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34442518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34581198	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34633780	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34784860	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35341067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627767	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3753550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61806381	0.93[ASN][1000 genomes]
rs61806384	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61806422	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61806423	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61808374	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71645243	0.91[ASN][1000 genomes]
rs71645245	0.84[EUR][1000 genomes]
rs743902	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs743903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3408396	chr1:175341429-175345727	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12730963	ZNF43	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175284200-175343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:175288800-175343200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:175288800-175343200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:175331400-175343200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:175332600-175343000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:175333200-175343200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:175340200-175343000	Weak transcription	Placenta	Placenta
8	chr1:175340200-175343200	Weak transcription	Fetal Brain Male	brain
9	chr1:175341600-175342800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:175341800-175342800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:175341800-175343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:175341800-175343200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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