Variant report

Variant	rs462365
Chromosome Location	chr21:40016124-40016125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1015748	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs463763	1.00[CEU][hapmap]
rs463780	1.00[EUR][1000 genomes]
rs466939	1.00[EUR][1000 genomes]
rs57208731	0.92[ASN][1000 genomes]
rs57446125	0.92[ASN][1000 genomes]
rs8132169	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065541	chr21:40009959-40024976	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1057719	chr21:40009959-40025433	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1058663	chr21:40009959-40031681	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1055287	chr21:40013735-40031681	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40012000-40016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:40012800-40016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:40014400-40016200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr21:40014400-40016200	Enhancers	Fetal Thymus	thymus
5	chr21:40014600-40016200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr21:40014600-40016200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr21:40014600-40016400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:40014800-40016200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr21:40015000-40016200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr21:40015200-40016200	Enhancers	Thymus	Thymus
11	chr21:40015600-40016200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:40015600-40017400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:40016000-40016200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr21:40016000-40017200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:40016000-40017400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr21:40016000-40018200	Weak transcription	Aorta	Aorta
17	chr21:40016000-40018800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:40016000-40027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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