Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66385419..66387304-chr7:66434643..66436919,2	K562	blood:

Variant related genes	Relation type
ENSG00000106609	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10950054	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10950055	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11762354	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12668022	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17747939	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17748121	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17748198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35244862	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3735155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3823610	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4718429	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6960230	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6974046	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7784393	0.85[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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66421400-66435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:66423400-66435400	Weak transcription	Colonic Mucosa	Colon
4	chr7:66424400-66439600	Weak transcription	K562	blood
5	chr7:66424800-66435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:66425800-66435400	Weak transcription	Gastric	stomach
7	chr7:66425800-66435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:66425800-66437200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:66425800-66437800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:66426400-66435200	Weak transcription	A549	lung
11	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:66427000-66435200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:66427200-66438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:66428200-66435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:66428200-66435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:66428200-66438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
19	chr7:66434400-66435200	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:66434400-66436200	Enhancers	Stomach Mucosa	stomach

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