Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:112198180..112200340-chr7:112211770..112213507,2	K562	blood:
2	chr7:112211969..112212837-chr7:112538509..112539434,2	MCF-7	breast:
3	chr7:112209623..112212498-chr7:112429919..112431599,2	K562	blood:
4	chr7:112211907..112212896-chr7:112508888..112509884,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146802	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1234346	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs1234348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1234350	0.88[EUR][1000 genomes]
rs1234351	0.90[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1234352	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1234383	0.82[ASN][1000 genomes]
rs1236840	0.91[ASN][1000 genomes]
rs12665935	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13232491	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1613412	0.81[ASN][1000 genomes]
rs1623536	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1796502	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs1971656	0.88[EUR][1000 genomes]
rs2079530	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2097672	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2188547	0.90[ASN][1000 genomes]
rs2860402	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28844	0.89[ASN][1000 genomes]
rs2905278	0.90[ASN][1000 genomes]
rs2905280	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2952678	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2952687	0.80[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs2952688	0.80[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3111438	0.93[ASN][1000 genomes]
rs3128399	0.93[ASN][1000 genomes]
rs4473967	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112207400-112213200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:112207400-112216400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112207800-112212400	Weak transcription	Brain Germinal Matrix	brain
4	chr7:112209800-112213800	Weak transcription	Colonic Mucosa	Colon
5	chr7:112211200-112214600	Enhancers	Fetal Intestine Small	intestine
6	chr7:112211200-112215200	Enhancers	Fetal Intestine Large	intestine
7	chr7:112211600-112214400	Enhancers	Stomach Mucosa	stomach
8	chr7:112211800-112213800	Enhancers	HepG2	liver
9	chr7:112211800-112216800	Enhancers	Fetal Heart	heart
10	chr7:112212000-112212400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr7:112212000-112212400	Enhancers	Gastric	stomach
12	chr7:112212000-112212400	Enhancers	Pancreas	Pancrea
13	chr7:112212000-112212400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr7:112212000-112212600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:112212000-112212600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr7:112212000-112212600	Enhancers	Spleen	Spleen
17	chr7:112212000-112213600	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:112212200-112212400	Enhancers	Left Ventricle	heart
19	chr7:112212200-112212400	Enhancers	Small Intestine	intestine
20	chr7:112212200-112212400	Enhancers	K562	blood
21	chr7:112212200-112213800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:112212200-112214000	Enhancers	Adipose Nuclei	Adipose
23	chr7:112212200-112214200	Enhancers	Skeletal Muscle Male	skeletal muscle

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