Variant report

Variant	rs991689
Chromosome Location	chr2:206374031-206374032
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10469758	0.83[AMR][1000 genomes]
rs10932117	0.83[AMR][1000 genomes]
rs11684023	1.00[AMR][1000 genomes]
rs12471061	0.83[AMR][1000 genomes]
rs13419041	1.00[EUR][1000 genomes]
rs1473084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16837286	1.00[EUR][1000 genomes]
rs16837294	1.00[EUR][1000 genomes]
rs1974688	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1988085	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160383	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2216109	0.83[AMR][1000 genomes]
rs2878751	1.00[AMR][1000 genomes]
rs4377318	1.00[EUR][1000 genomes]
rs4618031	1.00[AMR][1000 genomes]
rs4625893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4675533	0.83[AMR][1000 genomes]
rs4675534	1.00[AMR][1000 genomes]
rs56827879	1.00[EUR][1000 genomes]
rs61665423	1.00[EUR][1000 genomes]
rs6725078	1.00[EUR][1000 genomes]
rs6730102	1.00[AMR][1000 genomes]
rs6743334	1.00[AMR][1000 genomes]
rs6756042	1.00[EUR][1000 genomes]
rs6756917	1.00[EUR][1000 genomes]
rs73062407	1.00[EUR][1000 genomes]
rs73062568	1.00[EUR][1000 genomes]
rs73065003	1.00[EUR][1000 genomes]
rs73065009	1.00[EUR][1000 genomes]
rs7349394	1.00[AMR][1000 genomes]
rs738074	1.00[AMR][1000 genomes]
rs7594189	0.83[AMR][1000 genomes]
rs764150	1.00[AMR][1000 genomes]
rs9288368	1.00[AMR][1000 genomes]
rs975103	1.00[AMR][1000 genomes]
rs9973667	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv875731	chr2:206346586-206382030	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206362200-206375200	Weak transcription	HSMM	muscle
2	chr2:206363800-206375800	Weak transcription	Colonic Mucosa	Colon
3	chr2:206364200-206374400	Weak transcription	Lung	lung
4	chr2:206366000-206374400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:206367200-206378600	Weak transcription	Aorta	Aorta
6	chr2:206367200-206378800	Weak transcription	HSMMtube	muscle
7	chr2:206368200-206375000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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