Variant report

Variant	rs12547094
Chromosome Location	chr8:61845202-61845203
allele	C/T
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:18)

rs_ID	r²[population]
rs11780497	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11785002	0.81[AMR][1000 genomes]
rs11785004	0.88[CHB][hapmap];0.81[AMR][1000 genomes]
rs11785767	0.81[AMR][1000 genomes]
rs12544268	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1982638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4515540	0.88[CHB][hapmap];0.81[AMR][1000 genomes]
rs55664709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55818355	0.81[AMR][1000 genomes]
rs56339146	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60617901	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs61118409	0.81[AMR][1000 genomes]
rs6982364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72652561	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652562	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652569	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890948	chr8:61844766-61954970	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61840800-61845400	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:61842800-61845800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:61842800-61847600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:61843200-61850400	Weak transcription	Primary B cells from cord blood	blood
5	chr8:61843200-61850400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr8:61843600-61852400	Weak transcription	Fetal Thymus	thymus
7	chr8:61844400-61858200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:61844600-61845800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:61844600-61849000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:61844600-61851400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:61844800-61845800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:61844800-61846000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:61844800-61846400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:61845000-61846400	Enhancers	Brain Anterior Caudate	brain
15	chr8:61845000-61846400	Enhancers	Brain Cingulate Gyrus	brain
16	chr8:61845200-61845600	Weak transcription	Primary T cells from cord blood	blood
17	chr8:61845200-61846200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:61845200-61846200	Enhancers	Brain Angular Gyrus	brain
19	chr8:61845200-61846600	Enhancers	Brain Substantia Nigra	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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