Variant report

Variant	rs62138796
Chromosome Location	chr2:48514497-48514498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48514170..48516166-chr2:48523769..48525507,2	K562	blood:
2	chr2:48513964..48516198-chr2:48516767..48519055,2	MCF-7	breast:
3	chr2:48514433..48519005-chr2:48519179..48522844,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13404317	0.80[EUR][1000 genomes]
rs1509562	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17037255	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397205	0.97[ASN][1000 genomes]
rs28399967	0.83[AFR][1000 genomes]
rs28439229	0.82[AFR][1000 genomes]
rs4547574	0.81[EUR][1000 genomes]
rs57729372	0.84[ASN][1000 genomes]
rs62137000	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62138798	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62138804	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62138805	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62138808	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62138810	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62138815	0.87[ASN][1000 genomes]
rs62138816	0.87[ASN][1000 genomes]
rs62138817	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545025	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545026	1.00[ASN][1000 genomes]
rs6545031	0.83[AFR][1000 genomes]
rs6545033	0.81[AFR][1000 genomes]
rs6737455	0.82[AFR][1000 genomes]
rs6738828	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72820413	0.84[ASN][1000 genomes]
rs72820414	0.84[ASN][1000 genomes]
rs72887650	0.88[AFR][1000 genomes]
rs72887686	0.82[AFR][1000 genomes]
rs7563625	0.81[AFR][1000 genomes]
rs7576648	0.82[AFR][1000 genomes]
rs7583112	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959141	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9677579	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48513600-48514600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr2:48513800-48514800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr2:48514000-48516800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr2:48514000-48519400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:48514200-48517600	Weak transcription	K562	blood
7	chr2:48514400-48515600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:48514400-48515800	Enhancers	Primary neutrophils fromperipheralblood	blood

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