Variant report

Variant	rs12132714
Chromosome Location	chr1:210700689-210700690
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210547452..210548994-chr1:210700269..210703169,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10489381	1.00[ASN][1000 genomes]
rs11119530	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11119533	0.83[CEU][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11119534	0.84[CEU][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12121595	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121717	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12122405	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122988	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12126287	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127018	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12127170	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12127932	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12129347	0.84[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12129382	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12136151	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12723999	1.00[ASN][1000 genomes]
rs12727682	1.00[ASN][1000 genomes]
rs12728944	1.00[ASN][1000 genomes]
rs12736400	1.00[ASN][1000 genomes]
rs12741813	1.00[ASN][1000 genomes]
rs12741858	1.00[ASN][1000 genomes]
rs12745578	1.00[ASN][1000 genomes]
rs12749416	1.00[ASN][1000 genomes]
rs12750086	1.00[ASN][1000 genomes]
rs17188337	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17260445	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17260515	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17260522	0.84[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17260529	0.84[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1892471	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1892472	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1892473	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34167770	1.00[ASN][1000 genomes]
rs35288720	1.00[ASN][1000 genomes]
rs35374511	1.00[ASN][1000 genomes]
rs4540660	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56727567	0.81[AMR][1000 genomes]
rs58599805	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59289142	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59525134	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61826932	1.00[ASN][1000 genomes]
rs61828077	1.00[ASN][1000 genomes]
rs61828094	1.00[ASN][1000 genomes]
rs61828095	1.00[ASN][1000 genomes]
rs61828096	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61828123	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6540602	1.00[CHD][hapmap]
rs6657514	1.00[ASN][1000 genomes]
rs6680553	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6681264	1.00[ASN][1000 genomes]
rs6691136	1.00[ASN][1000 genomes]
rs6701536	1.00[ASN][1000 genomes]
rs72749373	0.81[AMR][1000 genomes]
rs7534803	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7550888	1.00[ASN][1000 genomes]
rs7551813	0.82[AMR][1000 genomes];0.90[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12132714	OR6C76	trans	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210680600-210731000	Weak transcription	HSMM	muscle
3	chr1:210698800-210701200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:210699000-210701200	Enhancers	Fetal Heart	heart
5	chr1:210699200-210700800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:210699200-210700800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:210699600-210701000	Enhancers	HSMMtube	muscle
8	chr1:210699600-210701200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:210700000-210700800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:210700400-210700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:210700400-210700800	Enhancers	Fetal Muscle Leg	muscle
12	chr1:210700400-210700800	Enhancers	Spleen	Spleen
13	chr1:210700400-210703800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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