Variant report

Variant	rs35892692
Chromosome Location	chr12:122317659-122317660
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122238153..122239713-chr12:122314823..122317698,2	MCF-7	breast:
2	chr12:122315165..122317742-chr12:122317863..122319858,2	K562	blood:
3	chr12:122315738..122318750-chr12:122325193..122328097,3	K562	blood:

Variant related genes	Relation type
ENSG00000110801	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000256950	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10840622	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10840624	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11043213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11043216	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11043217	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11043218	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11043219	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11043220	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11043223	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11043225	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11043229	0.97[ASN][1000 genomes]
rs11043237	0.97[ASN][1000 genomes]
rs11043242	0.83[ASN][1000 genomes]
rs11615980	0.97[ASN][1000 genomes]
rs12229068	0.80[ASN][1000 genomes]
rs12825161	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1610041	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2167067	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35599566	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35633723	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3847694	1.00[ASN][1000 genomes]
rs3887885	1.00[ASN][1000 genomes]
rs61954311	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6486780	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611928	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68055743	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7309024	1.00[ASN][1000 genomes]
rs7313252	1.00[ASN][1000 genomes]
rs7958406	0.91[ASN][1000 genomes]
rs7969671	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7970565	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35892692	HPD	cis	Heart Left Ventricle	GTEx
rs35892692	RP11-7M8.2	cis	Muscle Skeletal	GTEx
rs35892692	HPD	cis	Muscle Skeletal	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122311000-122320400	Weak transcription	K562	blood
2	chr12:122311800-122321000	Weak transcription	Right Atrium	heart
3	chr12:122312000-122322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:122313400-122319200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:122314600-122320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122315200-122320000	Weak transcription	Liver	Liver
7	chr12:122315400-122320000	Weak transcription	HepG2	liver

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