Variant report

Variant	rs17575198
Chromosome Location	chr2:62752798-62752799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13404899	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17575232	0.93[EUR][1000 genomes]
rs17575260	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62178013	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62178014	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62178019	0.87[EUR][1000 genomes]
rs62178038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72805586	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72805599	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7425836	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv2760551	chr2:62741167-62760232	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3336776	chr2:62747914-62813461	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv527200	chr2:62751619-62758044	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62749000-62753000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:62749200-62752800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:62749200-62760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:62751000-62752800	Enhancers	HepG2	liver
5	chr2:62751800-62752800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:62751800-62752800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:62751800-62753000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:62752000-62753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:62752000-62753200	Weak transcription	K562	blood
10	chr2:62752200-62754800	Weak transcription	HUVEC	blood vessel
11	chr2:62752600-62753600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:62752600-62753800	Weak transcription	Ovary	ovary
13	chr2:62752600-62753800	Weak transcription	Pancreas	Pancrea
14	chr2:62752600-62755400	Enhancers	Stomach Mucosa	stomach

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

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