Variant report

Variant	rs2612348
Chromosome Location	chr18:39064226-39064227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr18:39064183-39064235	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000267313	TF binding region

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1942072	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2587614	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2587617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2587630	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2587631	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2587640	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2587641	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2587643	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2587644	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2587645	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2587646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2587647	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612320	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2612321	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2612322	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2612337	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2612341	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2612345	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2612346	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612347	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612349	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612350	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2703169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2703170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2848747	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2848748	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2848757	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2848769	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7238489	0.92[EUR][1000 genomes]
rs7238895	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr18:39051200-39072000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:39063800-39066200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:39063800-39066400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr18:39064000-39065000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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