Variant report

Variant	rs7818987
Chromosome Location	chr8:104263446-104263447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10089245	0.84[ASN][1000 genomes]
rs10097018	0.84[ASN][1000 genomes]
rs10103573	0.87[ASN][1000 genomes]
rs10955313	0.87[ASN][1000 genomes]
rs11782632	0.84[ASN][1000 genomes]
rs12678419	0.94[ASN][1000 genomes]
rs16870240	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17799574	0.84[ASN][1000 genomes]
rs2201369	0.84[ASN][1000 genomes]
rs2201370	0.84[ASN][1000 genomes]
rs34111666	0.82[ASN][1000 genomes]
rs34602800	0.84[ASN][1000 genomes]
rs35710705	0.84[ASN][1000 genomes]
rs3736045	0.91[ASN][1000 genomes]
rs57766637	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60751214	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525471	0.94[ASN][1000 genomes]
rs6985929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997475	0.93[EUR][1000 genomes]
rs7002454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005789	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283943	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73283949	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817074	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818693	0.90[AFR][1000 genomes]
rs7822939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844873	0.87[ASN][1000 genomes]
rs996200	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:104252200-104279000	Weak transcription	Aorta	Aorta
3	chr8:104256200-104268600	Weak transcription	Left Ventricle	heart
4	chr8:104256600-104266600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:104257800-104263600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:104258400-104263600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:104259000-104267400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:104259800-104266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:104260000-104263600	Weak transcription	HUVEC	blood vessel
10	chr8:104261400-104267400	Weak transcription	NHDF-Ad	bronchial
11	chr8:104261600-104263800	Weak transcription	Osteobl	bone
12	chr8:104261600-104266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:104261600-104266800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:104261600-104267800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:104261800-104266800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:104262000-104266600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:104262400-104266400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:104263000-104264200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:104263000-104267400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:104263400-104264200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:104263400-104264400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:104263400-104264400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:104263400-104264400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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