Variant report

Variant	rs7563483
Chromosome Location	chr2:37034632-37034633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11124547	0.83[TSI][hapmap]
rs11890004	0.80[EUR][1000 genomes]
rs2072526	0.83[TSI][hapmap]
rs57817021	0.81[EUR][1000 genomes]
rs60390214	0.81[EUR][1000 genomes]
rs62132487	0.89[EUR][1000 genomes]
rs62132498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62132499	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62132503	1.00[EUR][1000 genomes]
rs62132505	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62132507	0.93[EUR][1000 genomes]
rs62132508	0.93[EUR][1000 genomes]
rs72869611	0.93[EUR][1000 genomes]
rs7564176	1.00[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr2:37027400-37044200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:37027600-37036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:37031600-37035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:37033800-37035400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:37034000-37034800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr2:37034200-37035200	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:37034200-37035600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:37034400-37034800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:37034400-37035800	Enhancers	Stomach Mucosa	stomach
10	chr2:37034600-37035200	Weak transcription	Colonic Mucosa	Colon
11	chr2:37034600-37036200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:37034600-37042800	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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