Variant report

Variant	rs60524475
Chromosome Location	chr2:56353831-56353832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10171800	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10178508	0.83[ASN][1000 genomes]
rs11125616	0.80[ASN][1000 genomes]
rs11883950	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13001865	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1368245	0.84[ASN][1000 genomes]
rs2023514	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2023515	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2160706	0.81[ASN][1000 genomes]
rs6545544	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34703	chr2:56272949-56382181	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874163	chr2:56280428-56357582	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv874164	chr2:56280428-56388746	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874165	chr2:56280428-56393918	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv9824	chr2:56282176-56392083	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874166	chr2:56282762-56370879	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv874167	chr2:56284418-56388746	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv457952	chr2:56292883-56388746	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv582031	chr2:56292883-56388746	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56346000-56354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:56347600-56354000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:56348000-56355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:56349200-56360400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:56350600-56375000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:56351200-56354200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:56351200-56370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:56353400-56354400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:56353400-56356400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:56353600-56354200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:56353800-56354200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:56353800-56354400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:56353800-56355000	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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