Variant report

Variant	rs7577612
Chromosome Location	chr2:56133857-56133858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56131067..56134057-chr2:56137110..56139857,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12611917	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3791663	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3791664	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3791666	0.93[AFR][1000 genomes];0.89[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56116400-56144400	Weak transcription	Lung	lung
2	chr2:56119600-56136400	Genic enhancers	HUVEC	blood vessel
3	chr2:56122600-56135000	Weak transcription	Aorta	Aorta
4	chr2:56129000-56144200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:56129000-56144400	Weak transcription	HSMMtube	muscle
6	chr2:56129200-56134800	Weak transcription	Ovary	ovary
7	chr2:56129200-56138400	Weak transcription	HMEC	breast
8	chr2:56129200-56142400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
10	chr2:56129400-56143000	Weak transcription	NHLF	lung
11	chr2:56130200-56134200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:56130200-56137000	Weak transcription	NH-A	brain
13	chr2:56130600-56134200	Strong transcription	Osteobl	bone
14	chr2:56131000-56134400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:56131800-56134800	Weak transcription	NHEK	skin
16	chr2:56132000-56134800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:56132000-56134800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:56132000-56134800	Weak transcription	Adipose Nuclei	Adipose
19	chr2:56132000-56136400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:56132200-56135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:56132400-56134400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:56132600-56136400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:56133000-56134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:56133800-56140800	Strong transcription	HSMM	muscle

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