Variant report

Variant	rs13417719
Chromosome Location	chr2:234494173-234494174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	2:234492023-234494396..2:234743181-234749667	Hela-S3	cervix:
2	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
3	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000072080	Chromatin interaction
ENSG00000234143	Chromatin interaction
ENSG00000242515	Chromatin interaction
ENSG00000123485	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10176427	1.00[EUR][1000 genomes]
rs10182651	1.00[EUR][1000 genomes]
rs13383300	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13383893	1.00[EUR][1000 genomes]
rs13385018	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs13387539	1.00[EUR][1000 genomes]
rs13390446	0.96[EUR][1000 genomes]
rs13394291	0.96[EUR][1000 genomes]
rs13394720	0.96[EUR][1000 genomes]
rs13395023	0.96[EUR][1000 genomes]
rs13401136	0.91[EUR][1000 genomes]
rs13404501	0.83[EUR][1000 genomes]
rs13405703	0.87[EUR][1000 genomes]
rs13408490	0.87[EUR][1000 genomes]
rs13430633	1.00[EUR][1000 genomes]
rs13432903	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17868296	1.00[EUR][1000 genomes]
rs28946875	1.00[EUR][1000 genomes]
rs4129945	1.00[EUR][1000 genomes]
rs4132954	1.00[EUR][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv11149	chr2:234492605-234501401	Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1801264	chr2:234492805-234500262	Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1802734	chr2:234492805-234500262	Enhancers Bivalent Enhancer Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	nsv522661	chr2:234493048-234496945	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
8	nsv961571	chr2:234494111-234495500	Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234486400-234494800	Weak transcription	A549	lung
2	chr2:234493000-234494200	Enhancers	Spleen	Spleen

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