Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:10454020-10454170	A549	lung:	n/a	n/a
2	GATA3	chr12:10453693-10454176	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr12:10453629-10454180	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10453243..10455277-chr12:10460503..10462364,2	K562	blood:

Variant related genes	Relation type
KLRD1	TF binding region
ENSG00000134539	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11053738	0.82[EUR][1000 genomes]
rs11053739	0.91[EUR][1000 genomes]
rs11053740	0.91[EUR][1000 genomes]
rs11611333	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12829155	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs1600126	0.82[EUR][1000 genomes]
rs1600130	0.96[CEU][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302489	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2537752	0.92[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs2617146	0.92[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs3759270	0.92[CEU][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs3759272	0.92[CEU][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3759273	0.92[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs3809214	0.96[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs3867486	0.89[EUR][1000 genomes]
rs3912117	0.96[CEU][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3927994	0.91[EUR][1000 genomes]
rs61242400	0.90[EUR][1000 genomes]
rs7135494	0.83[EUR][1000 genomes]
rs7301715	0.83[EUR][1000 genomes]
rs7313418	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs7314888	0.96[CEU][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7316530	0.83[EUR][1000 genomes]
rs7964452	0.82[EUR][1000 genomes]
rs7970821	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10447400-10455000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:10447800-10456600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:10453200-10454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:10453200-10461000	Weak transcription	Placenta	Placenta
5	chr12:10453400-10454600	Enhancers	Thymus	Thymus
6	chr12:10453400-10457000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:10453600-10454200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:10453600-10454400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:10453600-10454400	Enhancers	Fetal Thymus	thymus
10	chr12:10453600-10454400	Enhancers	Dnd41	blood
11	chr12:10453600-10454600	Enhancers	Primary T cells from cord blood	blood
12	chr12:10453800-10457200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:10454000-10454400	Enhancers	Muscle Satellite Cultured Cells	--

Quick Search: