Variant report

Variant	rs28454464
Chromosome Location	chr2:205595098-205595099
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10153811	1.00[AMR][1000 genomes]
rs10175864	0.92[ASN][1000 genomes]
rs10177498	1.00[AMR][1000 genomes]
rs11887005	1.00[ASN][1000 genomes]
rs13388123	1.00[AFR][1000 genomes]
rs13399555	1.00[ASN][1000 genomes]
rs13409132	1.00[ASN][1000 genomes]
rs13412019	0.92[ASN][1000 genomes]
rs16836575	0.92[ASN][1000 genomes]
rs28740988	1.00[ASN][1000 genomes]
rs66948261	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6706978	1.00[ASN][1000 genomes]
rs6712095	0.92[ASN][1000 genomes]
rs6746267	1.00[ASN][1000 genomes]
rs72932197	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7579849	0.92[ASN][1000 genomes]
rs7605751	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205572200-205596600	Weak transcription	HSMM	muscle
3	chr2:205572200-205597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:205580800-205595400	Weak transcription	Fetal Lung	lung
5	chr2:205587600-205596600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:205592400-205596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:205592600-205596600	Weak transcription	HSMMtube	muscle
8	chr2:205592600-205596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:205594000-205595400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:205594000-205596200	Enhancers	Fetal Brain Male	brain
11	chr2:205594200-205595200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:205594200-205595400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:205594200-205595400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:205594200-205595400	Weak transcription	Fetal Brain Female	brain
15	chr2:205594200-205595400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:205595000-205596600	Enhancers	Ovary	ovary

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

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