Variant report

Variant	rs12075127
Chromosome Location	chr1:72877489-72877490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493503	0.90[EUR][1000 genomes]
rs11209962	0.91[AFR][1000 genomes]
rs12082203	0.91[AFR][1000 genomes]
rs12085371	0.91[AFR][1000 genomes]
rs1342689	0.90[EUR][1000 genomes]
rs1361769	0.90[EUR][1000 genomes]
rs1418624	0.90[EUR][1000 genomes]
rs1418625	0.90[EUR][1000 genomes]
rs1418626	0.90[EUR][1000 genomes]
rs1418627	0.90[EUR][1000 genomes]
rs1418629	0.90[EUR][1000 genomes]
rs1445586	0.90[EUR][1000 genomes]
rs1664362	0.90[EUR][1000 genomes]
rs1664368	0.90[EUR][1000 genomes]
rs1664371	0.90[EUR][1000 genomes]
rs1664373	0.90[EUR][1000 genomes]
rs1664376	0.90[EUR][1000 genomes]
rs1664397	0.90[EUR][1000 genomes]
rs17092782	0.80[AFR][1000 genomes]
rs17092934	0.90[EUR][1000 genomes]
rs1775377	0.90[EUR][1000 genomes]
rs1775378	0.90[EUR][1000 genomes]
rs1775380	0.90[EUR][1000 genomes]
rs1775381	0.90[EUR][1000 genomes]
rs1775382	0.90[EUR][1000 genomes]
rs1775383	0.90[EUR][1000 genomes]
rs1775384	0.90[EUR][1000 genomes]
rs1775385	0.90[EUR][1000 genomes]
rs1822973	0.90[EUR][1000 genomes]
rs1822976	0.90[EUR][1000 genomes]
rs2002213	0.90[EUR][1000 genomes]
rs2590936	0.90[EUR][1000 genomes]
rs2797096	0.90[EUR][1000 genomes]
rs2797097	0.90[EUR][1000 genomes]
rs2797098	0.90[EUR][1000 genomes]
rs2797099	0.90[EUR][1000 genomes]
rs57856024	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv2757734	chr1:72742396-72886813	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv2758939	chr1:72742396-72886813	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv830204	chr1:72749851-72938571	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv947113	chr1:72810737-72948614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv2422432	chr1:72821856-73148651	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv871873	chr1:72861847-72975877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv870463	chr1:72861847-72995398	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv871758	chr1:72861847-72995398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv830215	chr1:72869049-73029787	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72873800-72877600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:72876000-72878000	Weak transcription	NHDF-Ad	bronchial
3	chr1:72877200-72878600	Enhancers	Muscle Satellite Cultured Cells	--

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