Variant report

Variant	rs73012059
Chromosome Location	chr2:168111068-168111069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10191894	1.00[EUR][1000 genomes]
rs10200054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13385369	1.00[EUR][1000 genomes]
rs13395423	1.00[EUR][1000 genomes]
rs13432607	1.00[EUR][1000 genomes]
rs3749002	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57270001	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58721716	1.00[EUR][1000 genomes]
rs59899923	1.00[EUR][1000 genomes]
rs60205651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61733879	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73012054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012057	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012070	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012073	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73012080	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73012100	1.00[EUR][1000 genomes]
rs73013905	1.00[EUR][1000 genomes]
rs73015832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73015836	1.00[EUR][1000 genomes]
rs73015837	1.00[EUR][1000 genomes]
rs73015840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73015841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73017746	1.00[EUR][1000 genomes]
rs73017764	1.00[EUR][1000 genomes]
rs73029722	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73029735	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73029741	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv875377	chr2:168084857-168203116	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv979347	chr2:168092753-168141678	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv875378	chr2:168107491-168297961	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	esv3364733	chr2:168109919-168302141	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv3413955	chr2:168110862-168111207	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168056800-168114000	Weak transcription	Psoas Muscle	Psoas
2	chr2:168095800-168112200	Strong transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:168097000-168112200	Strong transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:168100200-168115600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:168104000-168122200	Weak transcription	Left Ventricle	heart
6	chr2:168109400-168111200	Enhancers	Stomach Mucosa	stomach
7	chr2:168109800-168111400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:168109800-168112000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:168110000-168113200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:168110000-168113400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:168110600-168111200	Enhancers	Fetal Brain Male	brain
12	chr2:168110800-168112200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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