Variant report

Variant	rs949932
Chromosome Location	chr1:213111235-213111236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17020048	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6656738	1.00[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs73084226	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903802	0.94[ASN][1000 genomes]
rs9662838	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr1:213102400-213115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:213102800-213116000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:213105200-213111400	Weak transcription	GM12878-XiMat	blood
4	chr1:213107800-213119400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:213109800-213112400	Weak transcription	K562	blood
6	chr1:213110400-213113400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:213111000-213111400	Enhancers	Thymus	Thymus
8	chr1:213111200-213115600	Weak transcription	HepG2	liver

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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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