Variant report

Variant	rs3791665
Chromosome Location	chr2:56126509-56126510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56115118..56117380-chr2:56124971..56126764,2	K562	blood:
2	chr2:56126184..56127742-chr2:56139330..56142090,2	MCF-7	breast:
3	chr2:56125602..56128230-chr2:56135592..56138446,2	K562	blood:
4	chr2:56124048..56126966-chr2:56136585..56138996,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs3791668	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3828241	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60421193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61185054	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72924526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72924527	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56115400-56128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:56116400-56128600	Weak transcription	Ovary	ovary
3	chr2:56116400-56128800	Weak transcription	Placenta	Placenta
4	chr2:56116400-56128800	Weak transcription	Pancreas	Pancrea
5	chr2:56116400-56144400	Weak transcription	Lung	lung
6	chr2:56116600-56128200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:56116600-56128200	Weak transcription	HMEC	breast
8	chr2:56116600-56131000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:56119000-56128200	Weak transcription	A549	lung
10	chr2:56119400-56126800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56119400-56126800	Weak transcription	NHLF	lung
12	chr2:56119600-56136400	Genic enhancers	HUVEC	blood vessel
13	chr2:56119800-56128400	Weak transcription	NH-A	brain
14	chr2:56120000-56128000	Weak transcription	Hela-S3	cervix
15	chr2:56122400-56127400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:56122600-56128400	Strong transcription	Osteobl	bone
17	chr2:56122600-56135000	Weak transcription	Aorta	Aorta
18	chr2:56123200-56128200	Weak transcription	K562	blood
19	chr2:56124000-56126800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:56124400-56127600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:56125000-56127000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:56125200-56127400	Enhancers	Fetal Kidney	kidney
23	chr2:56125800-56128200	Strong transcription	HSMM	muscle
24	chr2:56125800-56129000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:56126000-56127600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:56126000-56129000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:56126200-56127000	Weak transcription	Brain Substantia Nigra	brain
28	chr2:56126200-56128000	Weak transcription	NHEK	skin
29	chr2:56126400-56126800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:56126400-56127200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:56126400-56128400	Weak transcription	HSMMtube	muscle
32	chr2:56126400-56130000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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