Variant report

Variant	rs233102
Chromosome Location	chr1:85772701-85772702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11582061	1.00[CEU][hapmap]
rs17127199	1.00[CEU][hapmap]
rs2284800	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs233101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2647396	0.81[CHB][hapmap]
rs2735587	0.80[CHB][hapmap]
rs2735591	0.80[CHB][hapmap]
rs2735592	0.80[CHB][hapmap]
rs2735594	0.81[CHB][hapmap]
rs2935	1.00[CEU][hapmap]
rs3813600	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs72722665	0.91[EUR][1000 genomes]
rs72722677	0.83[EUR][1000 genomes]
rs7530433	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
2	chr1:85764400-85774000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:85765200-85773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:85765200-85773600	Weak transcription	HMEC	breast
5	chr1:85768200-85773600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:85768200-85773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:85768400-85773400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:85769200-85773600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:85769400-85773600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:85769400-85773800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:85769400-85773800	Weak transcription	Fetal Stomach	stomach
12	chr1:85769600-85774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:85769800-85773600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:85771000-85773600	Weak transcription	NHDF-Ad	bronchial
15	chr1:85772400-85773600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:85772600-85772800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:85772600-85772800	Enhancers	HUVEC	blood vessel
18	chr1:85772600-85773800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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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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