Variant report

Variant	rs28623673
Chromosome Location	chr8:102842911-102842912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102841778..102844657-chr8:102844886..102847440,3	K562	blood:
2	chr8:102842176..102845083-chr8:102849432..102850991,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1148496	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1148497	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1148498	0.93[ASN][1000 genomes]
rs1148499	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1148501	0.88[ASN][1000 genomes]
rs1264865	0.96[ASN][1000 genomes]
rs1264866	0.93[ASN][1000 genomes]
rs1264930	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1264931	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1264932	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1264933	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1264952	0.87[ASN][1000 genomes]
rs1264953	0.82[ASN][1000 genomes]
rs1264954	0.88[ASN][1000 genomes]
rs1272384	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1313944	0.81[EUR][1000 genomes]
rs2155938	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155939	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155940	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2155941	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2509895	0.90[ASN][1000 genomes]
rs472471	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs472963	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs478875	0.91[ASN][1000 genomes]
rs480955	0.85[EUR][1000 genomes]
rs486196	0.85[EUR][1000 genomes]
rs488034	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs497905	0.82[EUR][1000 genomes]
rs519197	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520880	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs526533	0.82[EUR][1000 genomes]
rs534512	0.93[ASN][1000 genomes]
rs537941	0.93[ASN][1000 genomes]
rs539663	0.91[ASN][1000 genomes]
rs566264	0.84[EUR][1000 genomes]
rs566501	0.82[EUR][1000 genomes]
rs67887846	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991592	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828175	0.96[EUR][1000 genomes]
rs7828516	0.87[EUR][1000 genomes]
rs7829693	1.00[EUR][1000 genomes]
rs7842147	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9297313	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102832200-102843800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:102834800-102843800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:102835000-102844400	Weak transcription	Psoas Muscle	Psoas
5	chr8:102835000-102852000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:102836200-102844400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:102836600-102844000	Weak transcription	Fetal Heart	heart
8	chr8:102836600-102844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:102836800-102843800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:102837200-102844000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:102837800-102843800	Weak transcription	Aorta	Aorta
12	chr8:102838600-102848400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:102839600-102843800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:102840400-102843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:102840400-102843800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:102840400-102843800	Weak transcription	Left Ventricle	heart
17	chr8:102840400-102843800	Weak transcription	NHDF-Ad	bronchial
18	chr8:102840400-102844000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:102840400-102844200	Weak transcription	HSMMtube	muscle
20	chr8:102840400-102844400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:102840600-102843800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:102840600-102844000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:102840600-102844200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:102840800-102845200	Weak transcription	Adipose Nuclei	Adipose
25	chr8:102842200-102851000	Weak transcription	Fetal Kidney	kidney
26	chr8:102842400-102844000	Weak transcription	Fetal Brain Male	brain

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