Variant report

Variant	rs4722732
Chromosome Location	chr7:27755383-27755384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27702223..27704529-chr7:27754263..27757041,2	K562	blood:
2	chr7:27754406..27757331-chr7:27767738..27770016,2	K562	blood:
3	chr7:27754519..27756508-chr7:27757557..27759836,2	K562	blood:
4	chr7:27748144..27751771-chr7:27755375..27758191,3	K562	blood:
5	chr7:27754780..27756546-chr7:27757578..27760197,2	MCF-7	breast:
6	chr7:27737615..27739453-chr7:27754350..27756193,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11973028	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs17155928	0.87[CEU][hapmap];0.84[CHB][hapmap]
rs17611937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17685046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2051829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2285930	0.84[CHB][hapmap]
rs2391486	0.82[ASN][1000 genomes]
rs2391489	0.86[CEU][hapmap]
rs34369550	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4722733	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4722739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4722742	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4722744	0.87[CEU][hapmap]
rs55714615	0.97[ASN][1000 genomes]
rs56137979	0.95[ASN][1000 genomes]
rs61538692	0.95[ASN][1000 genomes]
rs62449631	0.95[ASN][1000 genomes]
rs6462056	0.81[EUR][1000 genomes]
rs6974060	0.95[ASN][1000 genomes]
rs6978847	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs757964	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785305	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790213	0.91[CEU][hapmap]
rs7796790	0.92[ASN][1000 genomes]
rs7804317	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808062	0.92[ASN][1000 genomes]
rs960293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs960294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9638847	0.95[ASN][1000 genomes]
rs9639564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4722732	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27751200-27756800	Enhancers	HepG2	liver
2	chr7:27751400-27755600	Enhancers	Fetal Intestine Large	intestine
3	chr7:27751400-27756400	Enhancers	Fetal Intestine Small	intestine
4	chr7:27753800-27755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:27754000-27755400	Enhancers	Osteobl	bone
6	chr7:27754000-27756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:27754200-27755600	Enhancers	Stomach Mucosa	stomach
8	chr7:27754400-27755400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:27754400-27755800	Enhancers	Brain Hippocampus Middle	brain
10	chr7:27754600-27755600	Enhancers	HUVEC	blood vessel
11	chr7:27754800-27758800	Weak transcription	Gastric	stomach
12	chr7:27755000-27756000	Enhancers	Small Intestine	intestine
13	chr7:27755000-27756400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:27755000-27756600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:27755000-27757800	Weak transcription	Fetal Lung	lung
16	chr7:27755200-27756200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:27755200-27756200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:27755200-27758000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:27755200-27762200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:27755200-27762800	Weak transcription	Brain Angular Gyrus	brain

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