Variant report

Variant	rs73187807
Chromosome Location	chr21:28289220-28289221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1036988	0.81[AFR][1000 genomes]
rs16979423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830582	1.00[ASN][1000 genomes]
rs2830587	1.00[ASN][1000 genomes]
rs28743106	0.90[ASN][1000 genomes]
rs56297631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59533344	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7510287	0.85[AFR][1000 genomes];0.95[ASN][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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1063371	chr21:28282660-28294991	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
6	nsv1065825	chr21:28282660-28296389	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
7	nsv1067026	chr21:28282660-28298049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
8	nsv1066904	chr21:28282834-28296389	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
2	chr21:28283600-28290800	Weak transcription	HSMMtube	muscle
3	chr21:28283600-28290800	Weak transcription	NHDF-Ad	bronchial
4	chr21:28287200-28289400	Weak transcription	HSMM	muscle
5	chr21:28288600-28289600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr21:28288600-28289600	Enhancers	Adipose Nuclei	Adipose
7	chr21:28288600-28291200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:28288600-28292400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:28288800-28289400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:28288800-28291400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:28289000-28289400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:28289000-28289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr21:28289000-28289600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr21:28289000-28289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:28289000-28289600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr21:28289000-28289600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:28289000-28290000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr21:28289000-28290800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:28289000-28293000	Enhancers	Hela-S3	cervix
20	chr21:28289200-28289400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr21:28289200-28289600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:28289200-28289600	Enhancers	Ovary	ovary

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