Variant report

Variant	rs12402202
Chromosome Location	chr1:114541955-114541956
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11102711	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11580207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11810241	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503834	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6689205	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7549714	0.93[ASN][1000 genomes]
rs870475	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114537400-114542200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:114538800-114545800	Weak transcription	Right Atrium	heart
3	chr1:114540400-114543000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:114540800-114542000	Enhancers	Fetal Lung	lung
5	chr1:114541000-114542400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:114541200-114542200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:114541200-114544200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:114541200-114544800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:114541200-114545200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:114541400-114542800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:114541400-114545000	Weak transcription	Fetal Stomach	stomach
12	chr1:114541600-114545200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:114541800-114546200	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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