Variant report

Variant	rs3103510
Chromosome Location	chr12:83863748-83863749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1490433	0.82[EUR][1000 genomes]
rs2896461	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103472	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103473	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103474	0.88[EUR][1000 genomes]
rs3103475	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103476	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103490	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103493	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3103496	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3112102	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3112103	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3112104	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3112106	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3112107	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3112108	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3112109	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4242865	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4334108	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7976754	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs989898	0.93[AMR][1000 genomes];0.99[EUR][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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1042674	chr12:83620899-83942628	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037194	chr12:83859925-83910630	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
4	nsv1041589	chr12:83861093-83890080	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83859800-83866400	Active TSS	Fetal Heart	heart
2	chr12:83863200-83863800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:83863400-83863800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:83863400-83864000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:83863600-83864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:83863600-83864000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83863600-83864200	Enhancers	iPS-18 Cell Line	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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