Variant report

Variant	rs2216478
Chromosome Location	chr12:106361971-106361972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1421456	0.84[ASN][1000 genomes]
rs2032770	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2111978	0.82[EUR][1000 genomes]
rs7304945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304960	0.82[ASN][1000 genomes]
rs7955669	0.81[ASN][1000 genomes]
rs7970571	0.81[JPT][hapmap]

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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106356000-106376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106356600-106364000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:106356800-106363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:106359200-106363800	Enhancers	Fetal Heart	heart
5	chr12:106359800-106362000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:106360400-106362000	Enhancers	HSMM	muscle
7	chr12:106360400-106362200	Enhancers	HSMMtube	muscle
8	chr12:106360800-106362200	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:106361000-106362000	Enhancers	Stomach Smooth Muscle	stomach
10	chr12:106361000-106367000	Weak transcription	Right Atrium	heart
11	chr12:106361600-106362000	Enhancers	Duodenum Smooth Muscle	Duodenum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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