Variant report

Variant	rs74094805
Chromosome Location	chr12:59774945-59774946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59774582..59777442-chr12:59779741..59781913,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs58679303	1.00[AMR][1000 genomes]
rs60448669	1.00[AMR][1000 genomes]
rs60751513	0.96[AFR][1000 genomes]
rs60860880	1.00[AMR][1000 genomes]
rs7306722	1.00[AMR][1000 genomes]
rs74091990	1.00[AMR][1000 genomes]
rs74092827	1.00[AMR][1000 genomes]
rs74092835	1.00[AMR][1000 genomes]
rs74092848	1.00[AMR][1000 genomes]
rs74092849	1.00[AMR][1000 genomes]
rs74092850	1.00[AMR][1000 genomes]
rs74092853	1.00[AMR][1000 genomes]
rs74092858	1.00[AMR][1000 genomes]
rs74092859	1.00[AMR][1000 genomes]
rs74092860	1.00[AMR][1000 genomes]
rs74092862	1.00[AMR][1000 genomes]
rs74092863	1.00[AMR][1000 genomes]
rs74092865	1.00[AMR][1000 genomes]
rs74092866	1.00[AMR][1000 genomes]
rs74092868	1.00[AMR][1000 genomes]
rs74092877	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092882	1.00[AMR][1000 genomes]
rs74092888	1.00[AMR][1000 genomes]
rs74092890	1.00[AMR][1000 genomes]
rs74092896	1.00[AMR][1000 genomes]
rs74092901	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093010	1.00[AMR][1000 genomes]
rs74093013	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093022	1.00[AMR][1000 genomes]
rs74093028	1.00[AMR][1000 genomes]
rs74093029	1.00[AMR][1000 genomes]
rs74093037	1.00[AMR][1000 genomes]
rs74093042	1.00[AMR][1000 genomes]
rs74094806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094874	1.00[AMR][1000 genomes]
rs74095210	1.00[AMR][1000 genomes]
rs74095212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559052	chr12:59532203-59809256	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv520767	chr12:59671388-59782228	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59767200-59776000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:59767800-59776000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:59768000-59775000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:59770200-59776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:59774800-59775200	Enhancers	HMEC	breast
6	chr12:59774800-59775400	Enhancers	NHEK	skin

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