Variant report

Variant	rs10040517
Chromosome Location	chr5:79580636-79580637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10037946	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10056450	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10064492	0.96[ASN][1000 genomes]
rs10474615	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10805932	0.81[ASN][1000 genomes]
rs10942918	0.93[ASN][1000 genomes]
rs10942919	0.85[ASN][1000 genomes]
rs11746517	0.99[ASN][1000 genomes]
rs28687412	0.81[ASN][1000 genomes]
rs4703807	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4704655	0.80[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs4704656	0.83[ASN][1000 genomes]
rs55765464	0.83[ASN][1000 genomes]
rs66984401	0.80[ASN][1000 genomes]
rs6863166	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6866853	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6880405	0.96[ASN][1000 genomes]
rs6881727	0.82[ASN][1000 genomes]
rs7711284	0.96[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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv522634	chr5:79577760-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv964902	chr5:79578051-79585364	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv518863	chr5:79578797-79580818	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79580200-79581000	Enhancers	Fetal Thymus	thymus
2	chr5:79580200-79581000	Enhancers	Thymus	Thymus
3	chr5:79580400-79581000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:79580400-79581200	Enhancers	Primary T cells from cord blood	blood
5	chr5:79580400-79581200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:79580400-79581200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:79580400-79581200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:79580400-79581200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:79580400-79581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:79580600-79580800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:79580600-79581000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:79580600-79581000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:79580600-79581000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:79580600-79581000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:79580600-79581000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:79580600-79581000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:79580600-79581000	Enhancers	Dnd41	blood
18	chr5:79580600-79581400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:79580600-79595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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