Variant report

Variant	rs7552618
Chromosome Location	chr1:114039800-114039801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1106209	0.94[ASN][1000 genomes]
rs12132889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12354140	0.93[ASN][1000 genomes]
rs12354322	0.90[ASN][1000 genomes]
rs12739961	0.93[ASN][1000 genomes]
rs2186051	0.84[AMR][1000 genomes]
rs2359412	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35724759	0.87[ASN][1000 genomes]
rs6685909	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6688796	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6700878	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7523209	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508548	chr1:114037563-114047827	Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv435905	chr1:114037702-114046085	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3350276	chr1:114038979-114046377	Active TSS Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3514843	chr1:114039089-114046011	Active TSS Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3364388	chr1:114039258-114046287	Weak transcription ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv5987	chr1:114039585-114046087	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3323435	chr1:114039683-114045989	Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3320620	chr1:114039744-114045995	Active TSS ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3514844	chr1:114039750-114045937	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3514845	chr1:114039750-114045937	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114034200-114053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:114039000-114039800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:114039400-114040000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:114039400-114040000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:114039600-114039800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:114039600-114039800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:114039600-114039800	ZNF genes & repeats	Pancreas	Pancrea
8	chr1:114039600-114040000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:114039600-114040000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr1:114039600-114040000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:114039800-114049400	Weak transcription	Pancreas	Pancrea
12	chr1:114039800-114050400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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