Variant report

Variant	rs60421193
Chromosome Location	chr2:56120154-56120155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56114693..56117341-chr2:56117578..56120415,2	K562	blood:
2	chr2:56118679..56120522-chr2:56149581..56152167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115380	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3791665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791668	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828241	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61185054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72924526	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72924527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56115400-56125800	Weak transcription	HSMMtube	muscle
2	chr2:56115400-56128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:56116400-56125800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:56116400-56128600	Weak transcription	Ovary	ovary
5	chr2:56116400-56128800	Weak transcription	Placenta	Placenta
6	chr2:56116400-56128800	Weak transcription	Pancreas	Pancrea
7	chr2:56116400-56144400	Weak transcription	Lung	lung
8	chr2:56116600-56120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:56116600-56121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:56116600-56128200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:56116600-56128200	Weak transcription	HMEC	breast
12	chr2:56116600-56131000	Weak transcription	Adipose Nuclei	Adipose
13	chr2:56118600-56120600	Genic enhancers	Osteobl	bone
14	chr2:56118600-56121000	Strong transcription	HSMM	muscle
15	chr2:56119000-56120200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56119000-56128200	Weak transcription	A549	lung
17	chr2:56119200-56121800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:56119400-56122000	Weak transcription	NHEK	skin
19	chr2:56119400-56126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:56119400-56126800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:56119400-56126800	Weak transcription	NHLF	lung
22	chr2:56119600-56122000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:56119600-56136400	Genic enhancers	HUVEC	blood vessel
24	chr2:56119800-56122200	Weak transcription	Aorta	Aorta
25	chr2:56119800-56128400	Weak transcription	NH-A	brain
26	chr2:56120000-56124000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56120000-56126400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:56120000-56128000	Weak transcription	Hela-S3	cervix

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