Variant report

Variant	rs2564549
Chromosome Location	chr12:30410520-30410521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10771674	0.95[ASN][1000 genomes]
rs10843669	0.95[ASN][1000 genomes]
rs1465600	0.98[ASN][1000 genomes]
rs1465601	0.98[ASN][1000 genomes]
rs1485420	0.95[ASN][1000 genomes]
rs1485421	0.95[ASN][1000 genomes]
rs1825527	0.98[ASN][1000 genomes]
rs2564543	0.87[ASN][1000 genomes]
rs2564556	0.98[ASN][1000 genomes]
rs2700036	0.88[ASN][1000 genomes]
rs2700041	0.98[ASN][1000 genomes]
rs7304514	0.95[ASN][1000 genomes]
rs7488207	0.87[ASN][1000 genomes]
rs7970841	0.95[ASN][1000 genomes]
rs7978619	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv516421	chr12:30309076-30411299	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050136	chr12:30320549-30415565	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv541437	chr12:30320549-30415565	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv430465	chr12:30377630-30422833	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv1048944	chr12:30380541-30411087	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1036958	chr12:30383022-30411087	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv430466	chr12:30391221-30411062	Weak transcription Enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1037656	chr12:30391221-30411087	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1054606	chr12:30397029-30411087	Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30409200-30416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:30410200-30410600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:30410200-30410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:30410200-30410800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:30410200-30410800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr12:30410400-30410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:30410400-30410800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:30410400-30410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:30410400-30411400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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