Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30522245..30525192-chr13:30528354..30530435,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11841228	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4769781	0.85[CEU][hapmap]
rs512583	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs566495	0.83[ASN][1000 genomes]
rs576712	0.86[ASN][1000 genomes]
rs634413	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs646917	0.83[EUR][1000 genomes]
rs6490436	0.88[ASN][1000 genomes]
rs6490437	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs649164	0.80[ASN][1000 genomes]
rs73159331	0.82[ASN][1000 genomes]
rs7332851	0.89[ASN][1000 genomes]
rs7334559	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7334714	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7339208	0.83[EUR][1000 genomes]
rs7358905	0.82[ASN][1000 genomes]
rs912788	0.83[CEU][hapmap]
rs9314990	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9314991	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9314992	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9506244	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30517400-30526000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:30519000-30524000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:30520200-30523000	Weak transcription	Placenta	Placenta
6	chr13:30521600-30523600	Enhancers	Brain Substantia Nigra	brain
7	chr13:30522000-30522600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:30522200-30523000	Enhancers	Pancreas	Pancrea
9	chr13:30522200-30523200	Enhancers	NHLF	lung
10	chr13:30522200-30523600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr13:30522200-30523600	Enhancers	HSMMtube	muscle
12	chr13:30522400-30522600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:30522400-30522800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:30522400-30523200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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