Variant report

Variant	rs56365214
Chromosome Location	chr2:58930167-58930168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:58923225..58924937-chr2:58928981..58930771,2	K562	blood:
2	chr2:58923437..58926334-chr2:58929271..58931460,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10490092	0.97[EUR][1000 genomes]
rs10490093	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13026438	0.98[EUR][1000 genomes]
rs13421824	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17049642	0.97[EUR][1000 genomes]
rs17190597	0.94[EUR][1000 genomes]
rs17190618	0.92[EUR][1000 genomes]
rs17269154	0.97[EUR][1000 genomes]
rs17269182	0.98[EUR][1000 genomes]
rs17549476	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549656	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549677	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549754	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549803	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550194	0.90[AMR][1000 genomes]
rs17550487	0.87[AMR][1000 genomes]
rs17614872	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17614895	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17615036	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615120	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615185	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615279	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615309	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615381	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615638	0.90[AMR][1000 genomes]
rs1922781	0.97[EUR][1000 genomes]
rs1922783	0.90[AMR][1000 genomes]
rs1950160	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204913	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35026255	0.82[AMR][1000 genomes]
rs55645922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55745617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56174720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56266136	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60018257	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60888271	0.90[AMR][1000 genomes]
rs984881	0.96[EUR][1000 genomes]
rs984882	0.97[EUR][1000 genomes]
rs984883	0.95[EUR][1000 genomes]
rs993531	0.90[AMR][1000 genomes]
rs993532	0.90[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:58928800-58930200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:58928800-58931400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:58929000-58930200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:58929000-58930200	Enhancers	HMEC	breast
5	chr2:58929000-58930200	Enhancers	HUVEC	blood vessel
6	chr2:58929000-58930600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:58929200-58930200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:58929200-58930200	Enhancers	HepG2	liver
9	chr2:58929200-58930400	Enhancers	NH-A	brain
10	chr2:58929200-58931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:58929400-58935600	Weak transcription	K562	blood
12	chr2:58929600-58930200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:58929800-58930200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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