Variant report

Variant	rs2716684
Chromosome Location	chr2:39907681-39907682
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10170462	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10177801	0.81[EUR][1000 genomes]
rs10186346	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10208929	0.81[EUR][1000 genomes]
rs11124689	0.81[EUR][1000 genomes]
rs12712652	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12989245	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13384364	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13405084	0.91[EUR][1000 genomes]
rs13409487	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1548870	0.81[EUR][1000 genomes]
rs1548871	0.81[EUR][1000 genomes]
rs1861244	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041736	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2058618	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2215956	0.81[EUR][1000 genomes]
rs2540200	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2540247	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2540248	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2540249	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2540250	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2540251	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2540252	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2540255	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2716682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2716683	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716686	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2716687	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716688	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2716690	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2716691	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2716692	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2716693	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716694	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2716720	0.81[EUR][1000 genomes]
rs2716732	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2716737	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2716738	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4670952	0.87[EUR][1000 genomes]
rs4670954	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6707177	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6711206	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6736442	0.81[EUR][1000 genomes]
rs6748628	0.80[EUR][1000 genomes]
rs917964	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs949812	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949813	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39895800-39913200	Weak transcription	Fetal Brain Male	brain
2	chr2:39901600-39910000	Weak transcription	Right Ventricle	heart
3	chr2:39905400-39916600	Enhancers	Fetal Heart	heart
4	chr2:39905800-39909000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:39906400-39907800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:39907200-39908400	Weak transcription	Left Ventricle	heart
7	chr2:39907400-39908600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:39907400-39909600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:39907400-39913000	Weak transcription	Fetal Kidney	kidney
10	chr2:39907600-39910600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:39907600-39913000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:39907600-39913200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:39907600-39922200	Weak transcription	HSMM	muscle

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