Variant report

Variant	rs2012492
Chromosome Location	chr7:129164536-129164537
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13225736	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1665086	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1665102	1.00[ASN][1000 genomes]
rs1668478	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4728166	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4731586	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs634484	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs664794	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs665316	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs690864	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs690898	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs691193	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692711	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	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	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129162200-129172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129163000-129166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:129163000-129172000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:129163800-129165200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:129163800-129165600	Enhancers	Hela-S3	cervix
7	chr7:129163800-129165800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr7:129163800-129166400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr7:129164200-129164600	Enhancers	NHEK	skin
10	chr7:129164200-129165400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:129164400-129165400	Enhancers	Primary monocytes fromperipheralblood	blood

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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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