Variant report

Variant	rs73412553
Chromosome Location	chr6:2054387-2054388
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	chr6:2053179..2055343-chr6:2055921..2058664,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10484947	1.00[ASN][1000 genomes]
rs10484948	1.00[ASN][1000 genomes]
rs11242727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134684	1.00[ASN][1000 genomes]
rs2076854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736862	1.00[ASN][1000 genomes]
rs35781270	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56905405	1.00[ASN][1000 genomes]
rs57366578	1.00[ASN][1000 genomes]
rs58499654	1.00[ASN][1000 genomes]
rs59275343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59609802	1.00[ASN][1000 genomes]
rs59936111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59952501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61109748	1.00[ASN][1000 genomes]
rs625781	1.00[ASN][1000 genomes]
rs6930064	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72494599	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410419	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410422	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410429	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410446	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412554	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73412595	0.88[AFR][1000 genomes]
rs73414503	0.80[AFR][1000 genomes]
rs73414521	1.00[ASN][1000 genomes]
rs73414524	1.00[ASN][1000 genomes]
rs73414527	1.00[ASN][1000 genomes]
rs73414530	1.00[ASN][1000 genomes]
rs73414544	1.00[ASN][1000 genomes]
rs73416657	1.00[ASN][1000 genomes]
rs73416659	1.00[ASN][1000 genomes]
rs73427457	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73716941	1.00[ASN][1000 genomes]
rs73716945	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv527735	chr6:2028237-2097654	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv522608	chr6:2032259-2203888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1019227	chr6:2038843-2142395	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538097	chr6:2038843-2142395	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2022400-2055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:2051600-2058200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:2053200-2060600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:2053600-2055000	Enhancers	Liver	Liver
6	chr6:2054000-2055200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:2054000-2056000	Enhancers	HepG2	liver
8	chr6:2054200-2055000	Enhancers	Stomach Mucosa	stomach

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