Variant report

Variant	rs34918593
Chromosome Location	chr5:44804571-44804572
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
2	chr5:44803599..44805422-chr5:44807607..44810623,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251141	Chromatin interaction
ENSG00000112996	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10512866	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951477	0.91[EUR][1000 genomes]
rs11957933	0.91[EUR][1000 genomes]
rs13153376	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153426	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163070	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165641	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166622	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167593	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172191	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173899	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180428	0.96[EUR][1000 genomes]
rs13183825	0.91[EUR][1000 genomes]
rs13184849	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185697	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187122	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187187	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188873	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901939	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901954	0.96[EUR][1000 genomes]
rs16901958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901986	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901987	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330571	0.88[EUR][1000 genomes]
rs34094652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34098474	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34133773	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34172556	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34216230	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282174	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34942360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35241613	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35278372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35472604	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534193	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564441	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35842403	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850760	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868527	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36163058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398644	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57288883	0.91[EUR][1000 genomes]
rs58871041	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59337658	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60303396	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60772043	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61695869	1.00[ASN][1000 genomes]
rs6451785	0.91[EUR][1000 genomes]
rs6860030	0.96[EUR][1000 genomes]
rs6869608	0.96[EUR][1000 genomes]
rs6870104	0.96[EUR][1000 genomes]
rs6870510	0.96[EUR][1000 genomes]
rs6876888	0.96[EUR][1000 genomes]
rs6877331	0.91[EUR][1000 genomes]
rs6877454	0.96[EUR][1000 genomes]
rs6881573	0.96[EUR][1000 genomes]
rs6882983	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891637	0.91[EUR][1000 genomes]
rs6893211	0.96[EUR][1000 genomes]
rs71590654	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73752417	1.00[ASN][1000 genomes]
rs73752418	1.00[ASN][1000 genomes]
rs7704815	0.91[EUR][1000 genomes]
rs7710153	0.96[EUR][1000 genomes]
rs7726555	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735466	1.00[EUR][1000 genomes]
rs7736197	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv597933	chr5:44740989-44810740	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	n/a
4	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv881280	chr5:44800665-44821736	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
9	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
2	chr5:44799200-44806800	Weak transcription	Dnd41	blood
3	chr5:44802200-44805400	Genic enhancers	Hela-S3	cervix
4	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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