Variant report

Variant	rs56130317
Chromosome Location	chr12:119521515-119521516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1830090	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67000224	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7958250	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976598	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr12:119513800-119523400	Weak transcription	Pancreas	Pancrea
2	chr12:119520600-119525000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:119520600-119525800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119520600-119526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:119520800-119525000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:119520800-119525800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:119520800-119526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:119521000-119522000	Weak transcription	Left Ventricle	heart
9	chr12:119521000-119526000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:119521000-119535600	Weak transcription	Fetal Brain Female	brain
11	chr12:119521200-119521600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119521200-119521600	Weak transcription	Fetal Heart	heart
13	chr12:119521200-119525800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:119521200-119537400	Weak transcription	Brain Germinal Matrix	brain

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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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