Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:70514582..70517348-chr14:70824742..70826514,2	MCF-7	breast:
2	chr14:70505048..70507568-chr14:70516082..70518702,2	MCF-7	breast:
3	chr14:70248801..70250348-chr14:70516038..70518090,2	K562	blood:

Variant related genes	Relation type
ENSG00000133983	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10129447	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10142899	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873226	0.81[CHD][hapmap]
rs1122271	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs11629291	0.82[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12435978	0.89[CHD][hapmap]
rs12589441	0.81[CHD][hapmap]
rs12883784	0.81[CHD][hapmap]
rs12883884	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs12884186	0.81[CHD][hapmap]
rs149250	0.81[CHD][hapmap]
rs150946	0.81[CHD][hapmap]
rs2125744	0.82[ASN][1000 genomes]
rs2169074	0.81[CHD][hapmap]
rs2839867	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809401	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs7141091	0.86[CHD][hapmap]
rs7142759	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs8014694	0.89[CHD][hapmap]
rs998919	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70511200-70518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:70511600-70519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
4	chr14:70513200-70519200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:70513200-70520000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70514200-70518000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:70514600-70531200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:70514800-70517800	Enhancers	HepG2	liver
9	chr14:70515800-70517000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:70515800-70520000	Weak transcription	Fetal Brain Female	brain
11	chr14:70516000-70517000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:70516000-70518800	Weak transcription	Gastric	stomach
13	chr14:70516400-70517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70516400-70517200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:70516400-70517800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:70516600-70517000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:70516600-70517800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70516600-70518000	Strong transcription	HSMMtube	muscle

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