Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:37815797-37816668	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233818	TF binding region

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

rs_ID	r²[population]
rs11088346	1.00[CHD][hapmap]
rs218643	0.85[EUR][1000 genomes]
rs218645	0.90[EUR][1000 genomes]
rs219775	0.81[CEU][hapmap]
rs219777	0.81[CEU][hapmap]
rs219780	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs219784	1.00[CHD][hapmap]
rs219785	0.82[EUR][1000 genomes]
rs219786	0.81[EUR][1000 genomes]
rs219788	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs219789	0.82[EUR][1000 genomes]
rs219793	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2244237	0.92[EUR][1000 genomes]
rs2633331	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2835342	1.00[CHD][hapmap]
rs2850082	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2850086	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2850101	0.92[EUR][1000 genomes]
rs2850109	0.92[EUR][1000 genomes]
rs8596	1.00[CHD][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	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1064194	chr21:37782214-37819820	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2244034	DSCR6	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37803800-37818600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:37804000-37831600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr21:37804000-37831600	Weak transcription	HSMMtube	muscle
4	chr21:37810400-37818800	Weak transcription	Pancreas	Pancrea
5	chr21:37810400-37833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:37810600-37818200	Weak transcription	NH-A	brain
7	chr21:37810600-37829200	Weak transcription	HSMM	muscle
8	chr21:37810600-37829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:37810800-37824600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:37810800-37826400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:37810800-37826400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr21:37810800-37827000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:37812000-37818800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:37815000-37822200	Weak transcription	Osteobl	bone
16	chr21:37815600-37817000	Enhancers	HUVEC	blood vessel
17	chr21:37816000-37818000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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