Variant report

Variant	rs12121565
Chromosome Location	chr1:211098815-211098816
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10494931	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10494932	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11119658	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11119664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11578692	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11579078	0.90[ASN][1000 genomes]
rs11582440	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11582507	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11583101	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11588573	0.84[ASN][1000 genomes]
rs12074568	0.84[ASN][1000 genomes]
rs12722738	0.80[ASN][1000 genomes]
rs12750762	0.90[ASN][1000 genomes]
rs12751504	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12752336	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12756697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12760791	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs1393028	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1501558	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1501560	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1501569	0.81[CEU][hapmap]
rs1539531	0.81[CEU][hapmap]
rs1572646	0.84[JPT][hapmap]
rs17188741	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17188748	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17188797	0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2134108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221250	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs33985151	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34773128	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34827659	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35019263	0.84[ASN][1000 genomes]
rs4262610	0.81[ASN][1000 genomes]
rs4638187	0.90[ASN][1000 genomes]
rs59374111	0.82[ASN][1000 genomes]
rs61850226	0.86[ASN][1000 genomes]
rs6540635	0.87[AFR][1000 genomes]
rs6540658	0.84[JPT][hapmap]
rs6669706	0.84[JPT][hapmap]
rs6683856	0.96[ASN][1000 genomes]
rs6697578	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6702598	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7414286	0.90[ASN][1000 genomes]
rs7519090	0.86[ASN][1000 genomes]
rs868963	0.82[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs9662051	0.84[EUR][1000 genomes];0.98[ASN][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	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873154	chr1:211057697-211117197	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12121565	HSD11B1	cis	parietal	SCAN
rs12121565	C1orf74	cis	parietal	SCAN
rs12121565	IKBKE	cis	cerebellum	SCAN
rs12121565	FCAMR	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211093400-211110800	Weak transcription	HSMM	muscle
2	chr1:211098800-211099000	Enhancers	A549	lung
3	chr1:211098800-211099200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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