Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112209623..112212498-chr7:112429919..112431599,2	K562	blood:

Variant related genes	Relation type
ENSG00000146802	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014362	0.98[ASN][1000 genomes]
rs1234347	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1234380	0.84[CHB][hapmap]
rs1234381	0.84[CHB][hapmap]
rs2952688	0.88[JPT][hapmap]
rs2966478	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs3095022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095055	0.80[EUR][1000 genomes]
rs3095056	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3111436	0.91[ASN][1000 genomes]
rs3111439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111441	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3128401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3128402	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3128403	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3128404	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3128406	0.85[AMR][1000 genomes]
rs3128407	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs43091	0.86[ASN][1000 genomes]
rs43095	0.84[ASN][1000 genomes]
rs43096	0.86[ASN][1000 genomes]
rs728462	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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr7:112207400-112212000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:112207400-112213200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:112207400-112216400	Weak transcription	Psoas Muscle	Psoas
4	chr7:112207800-112211800	Weak transcription	Fetal Heart	heart
5	chr7:112207800-112212200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:112207800-112212400	Weak transcription	Brain Germinal Matrix	brain
7	chr7:112209600-112212000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:112209800-112213800	Weak transcription	Colonic Mucosa	Colon
9	chr7:112211000-112211800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr7:112211200-112214600	Enhancers	Fetal Intestine Small	intestine
11	chr7:112211200-112215200	Enhancers	Fetal Intestine Large	intestine
12	chr7:112211400-112212000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:112211600-112212000	Enhancers	Duodenum Mucosa	Duodenum
14	chr7:112211600-112214400	Enhancers	Stomach Mucosa	stomach

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