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:21)

rs_ID	r²[population]
rs1014362	0.94[ASN][1000 genomes]
rs1234347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234380	0.86[CHB][hapmap]
rs1234381	0.86[CHB][hapmap]
rs2966478	0.86[CHB][hapmap]
rs3095022	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3095040	0.81[AMR][1000 genomes]
rs3095055	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3095056	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3111436	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3111439	0.96[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]
rs3111441	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3128400	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]
rs3128401	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3128402	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3128403	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3128407	0.81[EUR][1000 genomes]
rs3128421	0.81[AMR][1000 genomes]
rs43091	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs43096	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs728462	0.89[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	chr7:112207200-112211200	Weak transcription	Fetal Intestine Large	intestine
2	chr7:112207200-112211200	Weak transcription	Fetal Intestine Small	intestine
3	chr7:112207200-112211600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:112207400-112212000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:112207400-112213200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:112207400-112216400	Weak transcription	Psoas Muscle	Psoas
7	chr7:112207800-112211000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:112207800-112211800	Weak transcription	Fetal Heart	heart
9	chr7:112207800-112212200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:112207800-112212400	Weak transcription	Brain Germinal Matrix	brain
11	chr7:112209600-112212000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:112209800-112213800	Weak transcription	Colonic Mucosa	Colon
13	chr7:112210200-112211600	Weak transcription	Stomach Mucosa	stomach
14	chr7:112210400-112211400	Weak transcription	Rectal Mucosa Donor 31	rectum

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