Variant report

Variant	rs7168927
Chromosome Location	chr15:40797367-40797368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr15:40797148-40797697	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr15:40797162-40797535	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40761789..40767637-chr15:40797359..40801640,7	K562	blood:
2	chr15:40797354..40799146-chr15:40804664..40806260,2	MCF-7	breast:
3	chr15:40731663..40736686-chr15:40795056..40800792,8	K562	blood:

Variant related genes	Relation type
ENSG00000259536	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000169105	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10444792	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10518696	0.89[EUR][1000 genomes]
rs10851397	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11070276	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070278	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11632319	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12442697	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12916218	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1530942	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530943	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16970734	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16970854	0.89[EUR][1000 genomes]
rs1869303	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987795	0.85[AMR][1000 genomes]
rs2014367	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2034653	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2084941	0.85[EUR][1000 genomes]
rs2278889	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2290379	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2412528	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412530	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2412533	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2924389	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2959535	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2959547	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3803354	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4467046	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4561439	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923873	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4923877	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923878	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4923879	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4924473	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924474	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4924476	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4924482	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924483	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57140606	0.89[EUR][1000 genomes]
rs57736474	0.87[EUR][1000 genomes]
rs582736	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs589650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs607118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs611933	0.86[EUR][1000 genomes]
rs617031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs623187	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs624486	0.88[EUR][1000 genomes]
rs640919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492952	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6492953	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6492955	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs651131	0.84[EUR][1000 genomes]
rs667623	0.83[EUR][1000 genomes]
rs7163648	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7163889	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7164056	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7164166	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7164405	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7167239	0.84[EUR][1000 genomes]
rs7167922	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7168913	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7169872	0.81[EUR][1000 genomes]
rs7170073	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7170327	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7170946	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73396510	0.87[EUR][1000 genomes]
rs73396515	0.87[EUR][1000 genomes]
rs8024579	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8024802	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8029208	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8032453	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8033739	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8034726	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8038350	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040187	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8041816	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8041991	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8043197	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896797	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs921624	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9284288	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs976402	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9783737	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7168927	C15orf57	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40786600-40799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:40793600-40798800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:40793800-40799200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:40793800-40799200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:40793800-40799200	Weak transcription	HMEC	breast
6	chr15:40794000-40798800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:40794000-40799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:40794000-40799000	Weak transcription	NHEK	skin
9	chr15:40794000-40799200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:40797200-40797600	Enhancers	K562	blood

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