Variant report

Variant	rs73110880
Chromosome Location	chr12:41146451-41146452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs73108955	1.00[AFR][1000 genomes]
rs73108972	0.84[AFR][1000 genomes]
rs73108979	0.84[AFR][1000 genomes]
rs73108985	1.00[AFR][1000 genomes]
rs73109002	1.00[AFR][1000 genomes]
rs73110807	1.00[AFR][1000 genomes]
rs73110822	1.00[AFR][1000 genomes]
rs73110832	1.00[AFR][1000 genomes]
rs73110834	1.00[AFR][1000 genomes]
rs73110839	1.00[AFR][1000 genomes]
rs73110845	1.00[AFR][1000 genomes]
rs73110846	1.00[AFR][1000 genomes]
rs73110850	1.00[AFR][1000 genomes]
rs73110854	1.00[AFR][1000 genomes]
rs73110855	1.00[AFR][1000 genomes]
rs73110870	1.00[AFR][1000 genomes]
rs73110872	1.00[AFR][1000 genomes]
rs73110876	1.00[AFR][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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41133800-41162400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41144000-41147000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:41144200-41147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:41145400-41147000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:41146400-41151200	Weak transcription	Brain Substantia Nigra	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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