Variant report

Variant	rs9613451
Chromosome Location	chr22:27869375-27869376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1884133	0.86[JPT][hapmap]
rs62235442	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs738573	0.90[ASN][1000 genomes]
rs9608612	0.96[ASN][1000 genomes]
rs9613450	0.86[JPT][hapmap]
rs9625236	0.86[JPT][hapmap]
rs9625239	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27858400-27869600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:27859600-27869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:27864400-27870000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:27864600-27870000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:27864800-27870000	Weak transcription	Fetal Brain Male	brain
6	chr22:27868400-27869600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:27868600-27869800	Enhancers	HMEC	breast
8	chr22:27868800-27869800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:27868800-27870800	Enhancers	Fetal Stomach	stomach
10	chr22:27869000-27869400	Enhancers	NHEK	skin
11	chr22:27869000-27869600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr22:27869000-27869800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:27869000-27872000	Enhancers	Fetal Thymus	thymus
14	chr22:27869000-27873600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:27869200-27869400	Enhancers	HUVEC	blood vessel
16	chr22:27869200-27869600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr22:27869200-27873000	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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