Variant report

Variant	rs16839501
Chromosome Location	chr1:196097901-196097902
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196094395..196096626-chr1:196097794..196100175,3	K562	blood:
2	chr1:196093766..196096415-chr1:196097794..196099859,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10922020	0.92[ASN][1000 genomes]
rs10922021	0.92[ASN][1000 genomes]
rs10922025	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11579497	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11580248	0.95[ASN][1000 genomes]
rs11584379	0.96[ASN][1000 genomes]
rs11585296	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026982	0.96[ASN][1000 genomes]
rs12145194	0.92[ASN][1000 genomes]
rs12723371	0.93[ASN][1000 genomes]
rs12731126	0.92[ASN][1000 genomes]
rs12731271	0.95[ASN][1000 genomes]
rs12738563	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12745430	0.95[ASN][1000 genomes]
rs12749184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751055	0.83[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12753234	0.96[ASN][1000 genomes]
rs12756840	0.91[ASN][1000 genomes]
rs13376480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16839516	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs33964123	0.95[ASN][1000 genomes]
rs34314876	0.95[ASN][1000 genomes]
rs34770726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678032	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6696438	0.96[ASN][1000 genomes]
rs67657970	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67853446	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746186	0.96[ASN][1000 genomes]
rs72746187	0.96[ASN][1000 genomes]
rs72746189	0.96[ASN][1000 genomes]
rs72746191	0.96[ASN][1000 genomes]
rs72746193	0.96[ASN][1000 genomes]
rs72746199	0.96[ASN][1000 genomes]
rs72748417	0.97[ASN][1000 genomes]
rs72748422	0.80[ASN][1000 genomes]
rs72748424	0.80[ASN][1000 genomes]
rs7535849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757765	chr1:195803764-196119454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2758989	chr1:195803764-196119454	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv872948	chr1:195872295-196236425	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv470769	chr1:195901676-196187665	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv467339	chr1:195912579-196119310	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv548738	chr1:195912579-196119310	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv534209	chr1:196011881-196208885	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv872951	chr1:196027872-196166278	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv430080	chr1:196074775-196101014	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196097800-196098400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:196097800-196098400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:196097800-196099000	Enhancers	Fetal Heart	heart

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