Variant report

Variant	rs4271765
Chromosome Location	chr2:152549340-152549341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152547462..152550339-chr2:152552453..152555229,3	K562	blood:
2	chr2:152542053..152544842-chr2:152548104..152550538,2	MCF-7	breast:
3	chr2:152548118..152550339-chr2:152551774..152553953,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10170273	0.87[ASN][1000 genomes]
rs10178880	0.90[ASN][1000 genomes]
rs10193188	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10930723	0.90[ASN][1000 genomes]
rs10930740	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11695661	0.87[AFR][1000 genomes]
rs12052828	0.96[ASN][1000 genomes]
rs12620077	0.87[ASN][1000 genomes]
rs13032138	0.85[ASN][1000 genomes]
rs13428975	0.88[ASN][1000 genomes]
rs4289189	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4374369	0.89[ASN][1000 genomes]
rs4381781	0.91[ASN][1000 genomes]
rs4425075	0.80[ASN][1000 genomes]
rs4564765	0.86[ASN][1000 genomes]
rs4564766	0.94[ASN][1000 genomes]
rs6433569	0.94[ASN][1000 genomes]
rs6433575	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6713162	0.89[ASN][1000 genomes]
rs6715755	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6723129	0.88[ASN][1000 genomes]
rs6733811	0.96[ASN][1000 genomes]
rs6733909	0.96[ASN][1000 genomes]
rs6734148	0.88[ASN][1000 genomes]
rs6747113	0.87[ASN][1000 genomes]
rs7426114	0.89[ASN][1000 genomes]
rs7564674	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	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	chr2:152529200-152550000	Weak transcription	Aorta	Aorta
2	chr2:152541400-152566800	Weak transcription	Psoas Muscle	Psoas
3	chr2:152543600-152554000	Strong transcription	HSMMtube	muscle
4	chr2:152543800-152553800	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:152544400-152552800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr2:152547600-152549400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:152548400-152553200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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