Variant report

Variant	rs842785
Chromosome Location	chr1:192926096-192926097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1339590	0.81[AFR][1000 genomes]
rs1578163	0.81[AFR][1000 genomes]
rs1769058	0.81[AFR][1000 genomes]
rs1769060	0.90[AFR][1000 genomes]
rs1769061	0.81[AFR][1000 genomes]
rs2486498	0.81[AFR][1000 genomes]
rs2487289	0.81[AFR][1000 genomes]
rs73068182	0.81[AFR][1000 genomes]
rs842784	0.81[AFR][1000 genomes]
rs842786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842787	0.81[AFR][1000 genomes]
rs842788	0.80[AFR][1000 genomes]
rs842789	0.81[AFR][1000 genomes]
rs842799	0.81[AFR][1000 genomes]
rs842800	0.81[AFR][1000 genomes]
rs842801	0.81[AFR][1000 genomes]
rs842806	0.81[AFR][1000 genomes]
rs842807	0.81[AFR][1000 genomes]
rs842808	0.81[AFR][1000 genomes]
rs842809	0.81[AFR][1000 genomes]
rs842810	0.81[AFR][1000 genomes]
rs842811	0.81[AFR][1000 genomes]
rs842813	0.81[AFR][1000 genomes]
rs863600	0.81[AFR][1000 genomes]
rs866380	0.81[AFR][1000 genomes]
rs866381	0.81[AFR][1000 genomes]
rs946556	0.81[AFR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192917600-192927800	Weak transcription	Left Ventricle	heart
3	chr1:192922200-192928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:192922200-192928000	Weak transcription	HSMM	muscle
5	chr1:192922400-192927600	Weak transcription	NHDF-Ad	bronchial
6	chr1:192922400-192927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:192922400-192927800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:192923400-192931600	Weak transcription	Primary T cells from cord blood	blood
10	chr1:192925200-192926400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:192925200-192928800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:192925400-192927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:192925400-192927600	Weak transcription	Right Atrium	heart
14	chr1:192925400-192927800	Weak transcription	Osteobl	bone

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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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