Variant report

Variant	rs10491489
Chromosome Location	chr5:80252378-80252379
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:80251893-80252491	H1-hESC	embryonic stem cell:	n/a	chr5:80252154-80252166

Variant related genes	Relation type
ENSG00000251450	TF binding region
RASGRF2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10042253	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10042904	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1016100	chr5:80023679-80254194	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80248200-80252600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:80249000-80255000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:80251000-80252400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:80251000-80252600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:80251000-80253800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:80251200-80252400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:80251200-80252600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:80251200-80252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:80251200-80252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:80251200-80252800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:80251600-80252400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr5:80251600-80252400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:80251600-80252400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:80251600-80252400	Bivalent/Poised TSS	Osteobl	bone
15	chr5:80251600-80255800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:80251800-80253400	Bivalent Enhancer	Brain Germinal Matrix	brain
17	chr5:80252000-80253000	Enhancers	NH-A	brain
18	chr5:80252000-80254000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:80252200-80252400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr5:80252200-80252400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:80252200-80252400	Enhancers	Ovary	ovary
22	chr5:80252200-80253000	Enhancers	Brain Substantia Nigra	brain
23	chr5:80252200-80253400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:80252200-80254000	Enhancers	Primary T cells from cord blood	blood

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