Variant report

Variant	rs7296708
Chromosome Location	chr12:105702059-105702060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17036923	1.00[EUR][1000 genomes]
rs2116676	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2116677	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4372554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4544094	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57877894	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72487518	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73399763	1.00[EUR][1000 genomes]
rs73399769	1.00[EUR][1000 genomes]
rs73399775	1.00[EUR][1000 genomes]
rs73399778	1.00[EUR][1000 genomes]
rs73399779	1.00[EUR][1000 genomes]
rs73399781	1.00[EUR][1000 genomes]
rs73399782	1.00[EUR][1000 genomes]
rs73399787	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73399794	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73401704	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73401705	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73401708	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3394212	chr12:105693734-105708035	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	esv3358347	chr12:105693757-105707693	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105692200-105703600	Weak transcription	A549	lung
2	chr12:105692200-105708000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:105695400-105708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:105695800-105709200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:105696200-105709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:105698200-105702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:105700000-105704000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:105700200-105702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:105701200-105702200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:105701800-105702400	Weak transcription	HUVEC	blood vessel
11	chr12:105701800-105703600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:105701800-105709400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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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