Variant report

Variant	rs2279423
Chromosome Location	chr15:34357580-34357581
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34354339..34357870-chr15:34358322..34362266,6	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12437606	0.95[ASN][1000 genomes]
rs12442535	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12443077	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12917116	0.81[ASN][1000 genomes]
rs1436922	1.00[JPT][hapmap]
rs2632073	0.95[ASN][1000 genomes]
rs2632077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2632110	0.95[ASN][1000 genomes]
rs2705338	1.00[JPT][hapmap]
rs483279	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs486230	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs488762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs489945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs514472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs519152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs519210	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs520032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs541098	0.84[ASN][1000 genomes]
rs62014673	0.81[ASN][1000 genomes]
rs639860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs640291	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs646339	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs647721	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7175933	1.00[JPT][hapmap]
rs9672432	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv903985	chr15:34279319-34370487	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34349000-34358000	Weak transcription	Aorta	Aorta
2	chr15:34349400-34358000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:34354200-34372400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:34354200-34375600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:34354200-34376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:34354400-34379600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:34355000-34369000	Weak transcription	Liver	Liver
8	chr15:34357000-34358800	Enhancers	HMEC	breast
9	chr15:34357200-34357600	Weak transcription	NHEK	skin
10	chr15:34357200-34358800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr15:34357400-34357800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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