Variant report

Variant	rs2130039
Chromosome Location	chr4:56450685-56450686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10031586	1.00[EUR][1000 genomes]
rs1488940	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1533803	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1554482	1.00[EUR][1000 genomes]
rs17085739	1.00[EUR][1000 genomes]
rs17085769	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17085780	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17085821	1.00[EUR][1000 genomes]
rs2140076	1.00[EUR][1000 genomes]
rs2412660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35150421	1.00[EUR][1000 genomes]
rs57219525	1.00[EUR][1000 genomes]
rs57848550	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58395965	1.00[EUR][1000 genomes]
rs6820823	1.00[EUR][1000 genomes]
rs6847415	1.00[EUR][1000 genomes]
rs6855837	1.00[EUR][1000 genomes]
rs73151873	1.00[EUR][1000 genomes]
rs73151889	1.00[EUR][1000 genomes]
rs73153687	1.00[EUR][1000 genomes]
rs73817206	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73819624	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73819626	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73819631	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73819633	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73819635	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73819642	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73819647	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7655255	1.00[EUR][1000 genomes]
rs7693751	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr4:56441200-56464400	Weak transcription	K562	blood
2	chr4:56450000-56450800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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