Variant report

Variant	rs2194871
Chromosome Location	chr4:143436097-143436098
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1364916	1.00[AMR][1000 genomes]
rs1906874	1.00[AMR][1000 genomes]
rs2087445	1.00[AMR][1000 genomes]
rs4054899	1.00[AMR][1000 genomes]
rs57233248	1.00[AMR][1000 genomes]
rs59419951	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60037426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60148840	1.00[AMR][1000 genomes]
rs60942288	1.00[AMR][1000 genomes]
rs61411607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839853	1.00[AMR][1000 genomes]
rs7682953	1.00[AMR][1000 genomes]
rs975581	1.00[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143428800-143453000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143431800-143437600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143433400-143437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:143433800-143437200	Weak transcription	NHEK	skin
5	chr4:143433800-143437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:143434000-143437600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:143434000-143437600	Weak transcription	Osteobl	bone
8	chr4:143434000-143440600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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