Variant report

Variant	rs72874020
Chromosome Location	chr6:55559668-55559669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55546345..55549056-chr6:55558936..55561351,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11752812	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753028	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753553	1.00[ASN][1000 genomes]
rs11754509	1.00[ASN][1000 genomes]
rs11756219	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756598	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758071	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759233	1.00[ASN][1000 genomes]
rs11961322	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195454	1.00[ASN][1000 genomes]
rs228152	1.00[ASN][1000 genomes]
rs6923399	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874012	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72973115	1.00[ASN][1000 genomes]
rs72973134	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72973139	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72973142	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72973143	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976261	1.00[ASN][1000 genomes]
rs72988047	1.00[ASN][1000 genomes]
rs72988067	1.00[ASN][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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1026411	chr6:55372845-55653498	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv885905	chr6:55539010-55596618	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv885906	chr6:55539010-55612431	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv885907	chr6:55539010-55621377	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885908	chr6:55539010-55625041	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv885909	chr6:55539010-55674338	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55558200-55560200	Enhancers	Fetal Heart	heart
2	chr6:55558200-55560600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:55558200-55561200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:55558400-55560000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:55558400-55560800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:55558400-55560800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:55558600-55560000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:55558600-55560000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:55558600-55560600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:55558600-55561200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:55558800-55559800	Enhancers	Rectal Smooth Muscle	rectum
12	chr6:55559000-55561000	Enhancers	Colon Smooth Muscle	Colon
13	chr6:55559400-55561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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