Variant report

Variant	rs373458
Chromosome Location	chr8:8790226-8790227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1652817	0.85[ASN][1000 genomes]
rs1705172	0.85[ASN][1000 genomes]
rs17154962	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405613	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2941658	0.85[ASN][1000 genomes]
rs381241	0.90[ASN][1000 genomes]
rs4840374	0.85[ASN][1000 genomes]
rs58006063	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58357866	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601272	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987388	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7007974	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018277	0.85[ASN][1000 genomes]
rs73514346	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73526088	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73526096	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528003	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826585	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7834310	0.80[EUR][1000 genomes]
rs9650627	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv275541	chr8:8766881-8791144	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8776600-8792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:8779600-8799800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:8779800-8793600	Weak transcription	Right Ventricle	heart
4	chr8:8780600-8799800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:8781000-8799800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:8782000-8792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:8782400-8799800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:8784800-8795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:8788200-8796400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:8789600-8790400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:8789600-8791600	Enhancers	Hela-S3	cervix
15	chr8:8789600-8791800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:8789800-8791600	Enhancers	Osteobl	bone
17	chr8:8790000-8791400	Enhancers	A549	lung
18	chr8:8790000-8791600	Enhancers	NHDF-Ad	bronchial
19	chr8:8790000-8792800	Weak transcription	Esophagus	oesophagus
20	chr8:8790200-8790400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:8790200-8791400	Weak transcription	Placenta	Placenta

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