Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr12:10456449-10457118	GM12878	blood:	n/a	n/a
2	STAT3	chr12:10456489-10457014	MCF10A-Er-Src	breast:	n/a	chr12:10456979-10456990
3	RUNX3	chr12:10456526-10457209	GM12878	blood:	n/a	n/a
4	FOXM1	chr12:10456544-10457143	GM12878	blood:	n/a	n/a
5	RFX5	chr12:10456374-10457127	IMR90	lung:	n/a	n/a
6	CHD1	chr12:10456543-10457321	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
KLRD1	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2255542	0.86[AFR][1000 genomes]
rs2537784	0.86[AFR][1000 genomes]
rs2537785	0.86[AFR][1000 genomes]
rs2537786	0.86[AFR][1000 genomes]
rs2537787	0.86[AFR][1000 genomes]
rs2537788	0.86[AFR][1000 genomes]
rs2537794	0.81[AFR][1000 genomes]
rs2537796	1.00[ASW][hapmap];0.86[AFR][1000 genomes]
rs2537799	0.86[AFR][1000 genomes]
rs2537803	0.84[AFR][1000 genomes]
rs2617126	0.86[AFR][1000 genomes]
rs2617129	0.86[AFR][1000 genomes]
rs2617131	1.00[ASW][hapmap];0.92[LWK][hapmap];0.95[MKK][hapmap];0.86[AFR][1000 genomes]
rs2617139	1.00[ASW][hapmap];0.84[AFR][1000 genomes]
rs2617143	0.86[AFR][1000 genomes]
rs2927557	0.86[AFR][1000 genomes]
rs3912116	0.86[AFR][1000 genomes]
rs4764378	0.86[AFR][1000 genomes]
rs7135451	0.81[MKK][hapmap]
rs7297895	0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7308601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7961145	0.86[AFR][1000 genomes]
rs7966586	0.86[AFR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv605	chr12:10448638-10494208	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10447800-10456600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:10453200-10461000	Weak transcription	Placenta	Placenta
3	chr12:10453400-10457000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr12:10453800-10457200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:10454200-10458000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:10454800-10474400	Weak transcription	Left Ventricle	heart
7	chr12:10456000-10457000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:10456200-10457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:10456400-10457200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:10456400-10457800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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