Variant report

Variant	rs17111122
Chromosome Location	chr1:94596464-94596465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10874835	0.86[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs11165075	0.81[AMR][1000 genomes]
rs11165079	0.80[EUR][1000 genomes]
rs11165080	0.82[EUR][1000 genomes]
rs11165082	0.94[EUR][1000 genomes]
rs11588391	0.93[EUR][1000 genomes]
rs1931564	0.86[CEU][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs1931566	0.94[EUR][1000 genomes]
rs1931570	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs3789445	0.88[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61784007	0.93[EUR][1000 genomes]
rs61784009	0.94[EUR][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	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv871679	chr1:94579426-94598568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17111122	FAM69A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94588600-94596600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:94592000-94596600	Weak transcription	Placenta	Placenta
3	chr1:94592000-94596800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:94592000-94596800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:94592000-94597000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:94592200-94596800	Weak transcription	Liver	Liver
7	chr1:94592400-94596600	Weak transcription	HSMM	muscle
8	chr1:94592600-94596600	Weak transcription	HepG2	liver
9	chr1:94593000-94596600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:94594600-94597000	Weak transcription	Spleen	Spleen
11	chr1:94595600-94598000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:94595800-94597600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:94596400-94596600	Enhancers	NH-A	brain
14	chr1:94596400-94596600	Enhancers	Osteobl	bone
15	chr1:94596400-94596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:94596400-94596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:94596400-94596800	Enhancers	Fetal Kidney	kidney
18	chr1:94596400-94597200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:94596400-94597400	Enhancers	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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