Variant report

Variant	rs60865692
Chromosome Location	chr1:119106935-119106936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10754382	0.89[EUR][1000 genomes]
rs10923589	0.87[EUR][1000 genomes]
rs10923614	0.91[EUR][1000 genomes]
rs11590559	0.90[EUR][1000 genomes]
rs11590971	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12068221	0.83[EUR][1000 genomes]
rs12128952	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17257972	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4659103	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60640833	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60820425	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6660988	0.82[EUR][1000 genomes]
rs6684700	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1001577	chr1:119068257-119110725	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv547614	chr1:119074219-119106936	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv872169	chr1:119079566-119117167	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119100200-119107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:119106200-119108400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:119106800-119107200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:119106800-119107200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:119106800-119107200	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:119106800-119107200	Enhancers	GM12878-XiMat	blood
7	chr1:119106800-119108000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:119106800-119108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:119106800-119108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:119106800-119108200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:119106800-119108200	Enhancers	Rectal Smooth Muscle	rectum

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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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