Variant report

Variant	rs12104957
Chromosome Location	chr2:151563053-151563054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16828387	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs16828502	0.80[ASN][1000 genomes]
rs16828562	0.85[ASN][1000 genomes]
rs4664737	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731904	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6739921	0.85[ASN][1000 genomes]
rs6751079	0.85[ASN][1000 genomes]
rs72867442	0.80[ASN][1000 genomes]
rs72867459	0.80[ASN][1000 genomes]
rs72867486	0.80[ASN][1000 genomes]
rs72869138	0.85[ASN][1000 genomes]
rs72869142	0.85[ASN][1000 genomes]
rs72869146	0.85[ASN][1000 genomes]
rs72869148	0.85[ASN][1000 genomes]
rs72869150	0.85[ASN][1000 genomes]
rs72869151	0.85[ASN][1000 genomes]
rs72869154	0.85[ASN][1000 genomes]
rs72869167	0.85[ASN][1000 genomes]
rs72869169	0.85[ASN][1000 genomes]
rs72869179	0.85[ASN][1000 genomes]
rs72869182	0.85[ASN][1000 genomes]
rs72869188	0.85[ASN][1000 genomes]
rs72869189	0.85[ASN][1000 genomes]
rs72870904	1.00[ASN][1000 genomes]
rs7578593	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv2756950	chr2:151502539-151749973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv834416	chr2:151517784-151699912	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1010993	chr2:151535786-151742522	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv35134	chr2:151542492-151741492	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	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	chr2:151558600-151564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:151558800-151563600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:151559200-151564400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:151559400-151564400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:151559800-151564600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:151560000-151564400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:151562200-151569000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:151562400-151564000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:151562600-151564400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:151562800-151564400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:151562800-151564600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:151563000-151563200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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