Variant report

Variant	rs60132042
Chromosome Location	chr1:209870351-209870352
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]
rs17015095	0.93[ASN][1000 genomes]
rs17015099	0.93[ASN][1000 genomes]
rs56679555	0.93[ASN][1000 genomes]
rs57606822	1.00[ASN][1000 genomes]
rs6680324	0.93[ASN][1000 genomes]
rs73089407	0.86[ASN][1000 genomes]
rs73089412	0.86[ASN][1000 genomes]
rs73089418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846911	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846914	0.86[ASN][1000 genomes]
rs846915	0.86[ASN][1000 genomes]
rs860185	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA 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	chr1:209866200-209872200	Weak transcription	Thymus	Thymus
2	chr1:209866400-209870800	Weak transcription	Stomach Mucosa	stomach
3	chr1:209866800-209870400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:209866800-209870600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:209867000-209875400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:209869200-209870600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:209869200-209870800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:209869200-209870800	Enhancers	NHEK	skin
9	chr1:209869600-209870800	Enhancers	Fetal Heart	heart
10	chr1:209869800-209871200	Enhancers	Liver	Liver
11	chr1:209869800-209871400	Enhancers	Ovary	ovary
12	chr1:209870000-209870400	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:209870000-209870400	Enhancers	HMEC	breast
14	chr1:209870000-209870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:209870000-209870800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:209870000-209870800	Enhancers	Right Ventricle	heart
17	chr1:209870000-209871000	Enhancers	Right Atrium	heart
18	chr1:209870200-209870800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte 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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