Variant report

Variant	rs28458997
Chromosome Location	chr2:188208501-188208502
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188202421..188204619-chr2:188206871..188209816,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174460	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10221846	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388347	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392210	0.97[AFR][1000 genomes]
rs13396246	0.83[AFR][1000 genomes]
rs13399503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13401664	1.00[AMR][1000 genomes]
rs13401762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402842	0.83[AFR][1000 genomes]
rs13405653	0.97[AFR][1000 genomes]
rs13409677	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427655	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13430432	0.97[AFR][1000 genomes]
rs13432027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28363963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28585422	1.00[AMR][1000 genomes]
rs6434212	1.00[AMR][1000 genomes]
rs6715996	0.97[AFR][1000 genomes]
rs6721057	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6747392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6753145	0.97[AFR][1000 genomes]
rs7578599	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583999	1.00[AMR][1000 genomes]
rs7589584	0.90[AFR][1000 genomes]
rs7592458	0.97[AFR][1000 genomes]
rs7599181	0.87[AFR][1000 genomes];1.00[AMR][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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188210200	Weak transcription	Ovary	ovary
3	chr2:188203800-188210400	Weak transcription	Left Ventricle	heart
4	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
7	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
8	chr2:188207400-188209000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:188207600-188210200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:188208200-188209800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:188208400-188210200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:188208400-188210200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:188208400-188210200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:188208400-188210200	Weak transcription	Adipose Nuclei	Adipose

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