Variant report

Variant	rs73192282
Chromosome Location	chr8:8787969-8787970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28675154	1.00[EUR][1000 genomes]
rs56076774	1.00[EUR][1000 genomes]
rs60102003	1.00[EUR][1000 genomes]
rs73192289	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73192291	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73192296	1.00[EUR][1000 genomes]
rs73193909	1.00[EUR][1000 genomes]
rs73193911	1.00[EUR][1000 genomes]
rs73193912	1.00[EUR][1000 genomes]
rs73193914	1.00[EUR][1000 genomes]
rs73193915	1.00[EUR][1000 genomes]
rs73193918	1.00[EUR][1000 genomes]
rs7816099	1.00[EUR][1000 genomes]
rs7846593	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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:14 , 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	chr8:8784000-8788200	Weak transcription	Placenta	Placenta
11	chr8:8784800-8795800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:8787600-8788400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:8787800-8788200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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