Variant report

Variant	rs2715988
Chromosome Location	chr4:121166727-121166728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1355112	0.80[ASN][1000 genomes]
rs2036695	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2036696	0.91[ASN][1000 genomes]
rs2662702	0.98[ASN][1000 genomes]
rs2662704	0.95[ASN][1000 genomes]
rs2662708	0.94[ASN][1000 genomes]
rs2662709	0.95[ASN][1000 genomes]
rs2662715	0.89[ASN][1000 genomes]
rs2662720	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2662721	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2662722	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2662727	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2662731	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2662735	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2662738	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2662739	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2662741	0.91[ASN][1000 genomes]
rs2662743	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2662747	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2662749	0.86[ASN][1000 genomes]
rs2662754	0.92[ASN][1000 genomes]
rs2662760	0.84[ASN][1000 genomes]
rs2693755	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2693756	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2693758	0.89[ASN][1000 genomes]
rs2715951	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715952	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2715953	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2715957	0.84[ASN][1000 genomes]
rs2715958	0.89[ASN][1000 genomes]
rs2715959	0.89[ASN][1000 genomes]
rs2715960	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2715965	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2715966	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715968	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2715978	0.95[ASN][1000 genomes]
rs2715983	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2715989	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2716009	0.95[ASN][1000 genomes]
rs2716010	0.93[ASN][1000 genomes]
rs6534178	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955002	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9997147	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv1845528	chr4:121034480-121185834	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv595333	chr4:121093248-121440368	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1005240	chr4:121093285-121420997	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1002606	chr4:121145456-121194713	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3467359	chr4:121165143-121167235	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3467360	chr4:121165143-121167235	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3432363	chr4:121165508-121167067	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121165200-121167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:121165200-121167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:121165400-121167800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:121166400-121167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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