Variant report

Variant	rs12473617
Chromosome Location	chr2:127642492-127642493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10928993	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11690380	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11696037	0.89[EUR][1000 genomes]
rs13008155	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13009262	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13401753	0.98[EUR][1000 genomes]
rs3795873	0.98[EUR][1000 genomes]
rs4663054	0.95[ASN][1000 genomes]
rs4663057	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4663058	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4663059	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6725432	0.97[EUR][1000 genomes]
rs6733840	0.98[EUR][1000 genomes]
rs6737070	0.90[EUR][1000 genomes]
rs6737793	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7419309	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7425345	0.96[ASN][1000 genomes]
rs7570970	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs938018	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004166	chr2:127634679-127672143	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv979341	chr2:127636237-127648526	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127636400-127643800	Weak transcription	Right Atrium	heart
2	chr2:127637600-127643000	Weak transcription	Fetal Kidney	kidney
3	chr2:127637600-127643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:127637600-127643800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:127637600-127643800	Weak transcription	Gastric	stomach
6	chr2:127637800-127643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:127638400-127643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:127638400-127643200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:127639600-127643000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:127639600-127643400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:127641400-127643600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:127641600-127642600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:127641800-127643600	Enhancers	Fetal Stomach	stomach
14	chr2:127642200-127643400	Weak transcription	Fetal Brain Female	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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