Variant report

Variant	rs55738305
Chromosome Location	chr7:27737239-27737240
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27735644..27737460-chr7:27744918..27746710,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11763499	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766320	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155666	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611937	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17685046	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2108309	0.80[ASN][1000 genomes]
rs2237337	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2391486	0.88[EUR][1000 genomes]
rs55714615	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56137979	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61538692	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62449631	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62454807	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62454947	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462043	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950949	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957836	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958125	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974060	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6974991	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808062	0.92[EUR][1000 genomes]
rs960293	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs960294	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9638846	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638847	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9639563	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639564	0.94[EUR][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
rs55738305	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27729600-27742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:27733800-27737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:27733800-27737600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:27733800-27737600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:27734000-27737400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:27734000-27737600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:27734200-27742600	Weak transcription	Osteobl	bone
8	chr7:27734400-27737600	Weak transcription	HepG2	liver
9	chr7:27734800-27740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:27735400-27737400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27735400-27737600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:27735400-27737600	Weak transcription	NHLF	lung
13	chr7:27736200-27737400	Weak transcription	A549	lung
14	chr7:27736600-27738000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:27736600-27739400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:27736800-27737800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:27736800-27737800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:27736800-27738600	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:27737000-27738800	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:27737200-27738000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:27737200-27738000	Enhancers	NHDF-Ad	bronchial
22	chr7:27737200-27738600	Enhancers	Primary B cells from cord blood	blood

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