Variant report

Variant	rs6986362
Chromosome Location	chr8:49023180-49023181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49022447..49025274-chr8:49027665..49030451,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10091017	1.00[JPT][hapmap]
rs10101719	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105584	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106778	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap]
rs10808897	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs10958438	0.80[ASN][1000 genomes]
rs11991957	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11997106	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12334811	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap]
rs1551655	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1894311	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs28457765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28641816	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs28846382	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28876171	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873266	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs4873770	0.82[CEU][hapmap]
rs58108179	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6474034	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6992520	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6993087	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7014934	0.82[ASN][1000 genomes]
rs72633930	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72633933	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8178016	0.82[CEU][hapmap]
rs9657054	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]

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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv398353	chr8:49021820-49023463	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49021400-49035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49022600-49023200	Weak transcription	NH-A	brain

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