Variant report

Variant	rs7843472
Chromosome Location	chr8:125770747-125770748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125767375..125769412-chr8:125770640..125772817,3	K562	blood:
2	chr8:125770013..125772423-chr8:125787066..125788729,2	K562	blood:
3	chr8:125768761..125773057-chr8:125773104..125777533,5	K562	blood:
4	chr8:125763897..125765849-chr8:125769752..125772149,2	K562	blood:
5	chr8:125768703..125771246-chr8:125774244..125777053,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13268191	0.84[EUR][1000 genomes]
rs13270557	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870926	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4871534	0.90[CHB][hapmap];0.87[CHD][hapmap]
rs4871536	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871538	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986404	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs7841287	0.90[CHB][hapmap];0.84[CHD][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
3	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:125767600-125772400	Weak transcription	Osteobl	bone
5	chr8:125767600-125772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125767800-125770800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:125767800-125772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:125767800-125772400	Weak transcription	Fetal Heart	heart
9	chr8:125767800-125772600	Weak transcription	Pancreas	Pancrea
10	chr8:125769200-125770800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr8:125769200-125770800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:125769200-125771000	Enhancers	Primary B cells from cord blood	blood
13	chr8:125769400-125770800	Enhancers	Primary T cells from cord blood	blood
14	chr8:125769400-125770800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:125770000-125771000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:125770200-125770800	Enhancers	Fetal Muscle Leg	muscle
17	chr8:125770400-125770800	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:125770400-125770800	Enhancers	Psoas Muscle	Psoas
19	chr8:125770400-125771200	Enhancers	GM12878-XiMat	blood
20	chr8:125770400-125772400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:125770400-125772400	Weak transcription	HSMM	muscle
22	chr8:125770600-125771200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:125770600-125772400	Weak transcription	HSMMtube	muscle

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