Variant report

Variant	rs12726210
Chromosome Location	chr1:175860452-175860453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10913093	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913100	1.00[CEU][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes]
rs11805196	0.96[EUR][1000 genomes]
rs11807032	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs12239742	0.93[EUR][1000 genomes]
rs12406237	0.93[EUR][1000 genomes]
rs12409939	0.93[EUR][1000 genomes]
rs12724711	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12726737	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12728682	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12730153	0.94[EUR][1000 genomes]
rs12730725	0.98[EUR][1000 genomes]
rs12735431	0.93[EUR][1000 genomes]
rs12736942	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12738956	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12740514	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12745657	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12752542	0.96[EUR][1000 genomes]
rs12752829	0.93[EUR][1000 genomes]
rs12753832	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12754330	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12755734	0.98[EUR][1000 genomes]
rs12757152	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12758770	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12759426	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12759478	0.93[EUR][1000 genomes]
rs12759736	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1303987	0.93[EUR][1000 genomes]
rs57385190	0.96[EUR][1000 genomes]
rs6687954	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71514835	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7525623	0.93[EUR][1000 genomes]
rs7528198	0.98[EUR][1000 genomes]
rs7534440	0.93[EUR][1000 genomes]
rs7551283	0.93[EUR][1000 genomes]
rs7555561	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12726210	IL6R	trans	cerebellum	SCAN
rs12726210	TNN	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:175855000-175870600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:175855200-175862200	Weak transcription	Right Atrium	heart
4	chr1:175855200-175879400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:175855400-175869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:175855400-175879400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:175857200-175875800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:175857600-175861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:175857600-175862200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:175857600-175879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:175858200-175879400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:175858600-175864600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:175858800-175876800	Weak transcription	HSMM	muscle
14	chr1:175858800-175879400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:175858800-175879400	Weak transcription	HSMMtube	muscle
16	chr1:175859200-175879400	Weak transcription	Fetal Muscle Leg	muscle

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