Variant report

Variant	rs73550769
Chromosome Location	chr11:74018018-74018019
allele	A/G
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	SPI1	chr11:74017442-74018018	HL-60	blood:	n/a	chr11:74017682-74017689 chr11:74017678-74017691 chr11:74017679-74017692
2	TCF12	chr11:74017837-74019097	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73978816..73980431-chr11:74015826..74018389,2	K562	blood:

Variant related genes	Relation type
ENSG00000246211	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10488770	0.86[ASN][1000 genomes]
rs10488771	0.86[ASN][1000 genomes]
rs10501413	0.86[ASN][1000 genomes]
rs10501414	0.86[ASN][1000 genomes]
rs12291090	0.86[ASN][1000 genomes]
rs12417387	0.80[EUR][1000 genomes]
rs12421228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794753	0.86[ASN][1000 genomes]
rs17132721	0.86[ASN][1000 genomes]
rs17132796	0.86[ASN][1000 genomes]
rs17132801	0.86[ASN][1000 genomes]
rs17132816	0.86[ASN][1000 genomes]
rs17132818	0.86[ASN][1000 genomes]
rs17132826	0.86[ASN][1000 genomes]
rs17132836	0.86[ASN][1000 genomes]
rs17132837	0.86[ASN][1000 genomes]
rs17132846	0.86[ASN][1000 genomes]
rs17132855	0.86[ASN][1000 genomes]
rs17132864	0.86[ASN][1000 genomes]
rs17132870	0.86[ASN][1000 genomes]
rs17132882	0.86[ASN][1000 genomes]
rs17132891	0.86[ASN][1000 genomes]
rs17132911	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132914	0.86[ASN][1000 genomes]
rs17132921	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17132931	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17132947	0.86[ASN][1000 genomes]
rs17132965	0.86[ASN][1000 genomes]
rs17160052	0.86[ASN][1000 genomes]
rs2154971	0.86[ASN][1000 genomes]
rs2186561	0.86[ASN][1000 genomes]
rs34895949	0.86[ASN][1000 genomes]
rs35893979	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3897548	0.86[ASN][1000 genomes]
rs4121666	0.86[ASN][1000 genomes]
rs41349744	0.86[ASN][1000 genomes]
rs4489773	0.86[ASN][1000 genomes]
rs4575301	0.86[ASN][1000 genomes]
rs530709	0.83[EUR][1000 genomes]
rs55814391	0.86[ASN][1000 genomes]
rs56142225	0.86[ASN][1000 genomes]
rs56171120	0.86[ASN][1000 genomes]
rs56343229	0.86[ASN][1000 genomes]
rs56808069	0.86[ASN][1000 genomes]
rs56984031	0.86[ASN][1000 genomes]
rs57115412	0.86[ASN][1000 genomes]
rs57384187	0.86[ASN][1000 genomes]
rs57393325	0.86[ASN][1000 genomes]
rs57642592	0.86[ASN][1000 genomes]
rs58102808	0.86[ASN][1000 genomes]
rs58421256	0.86[ASN][1000 genomes]
rs58898896	0.86[ASN][1000 genomes]
rs60044681	0.86[ASN][1000 genomes]
rs60206858	0.86[ASN][1000 genomes]
rs60218608	0.86[ASN][1000 genomes]
rs60219367	0.86[ASN][1000 genomes]
rs60981452	0.86[ASN][1000 genomes]
rs61132076	0.86[ASN][1000 genomes]
rs644910	0.90[EUR][1000 genomes]
rs6592549	0.86[ASN][1000 genomes]
rs6592550	0.86[ASN][1000 genomes]
rs7106817	0.86[ASN][1000 genomes]
rs7107268	0.86[ASN][1000 genomes]
rs7110062	0.86[ASN][1000 genomes]
rs7113898	0.86[ASN][1000 genomes]
rs7126696	0.86[ASN][1000 genomes]
rs7127358	0.86[ASN][1000 genomes]
rs7129659	0.86[ASN][1000 genomes]
rs7129774	0.86[ASN][1000 genomes]
rs73549014	0.86[ASN][1000 genomes]
rs73549059	0.86[ASN][1000 genomes]
rs73549071	0.86[ASN][1000 genomes]
rs73550730	0.86[ASN][1000 genomes]
rs73550751	0.86[ASN][1000 genomes]
rs73550754	0.86[ASN][1000 genomes]
rs73550755	0.86[ASN][1000 genomes]
rs73550761	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73550772	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs73561882	0.86[ASN][1000 genomes]
rs73561885	0.86[ASN][1000 genomes]
rs73565826	0.86[ASN][1000 genomes]
rs73565828	0.86[ASN][1000 genomes]
rs73565829	0.86[ASN][1000 genomes]
rs73565839	0.86[ASN][1000 genomes]
rs73565840	0.86[ASN][1000 genomes]
rs73565842	0.86[ASN][1000 genomes]
rs7924965	0.86[ASN][1000 genomes]
rs7925320	0.86[ASN][1000 genomes]
rs7925695	0.86[ASN][1000 genomes]
rs7926891	0.86[ASN][1000 genomes]
rs7943916	0.86[ASN][1000 genomes]
rs7947458	0.86[ASN][1000 genomes]
rs947840	0.86[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73999800-74018400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:73999800-74022200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:74000200-74018400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:74013200-74018200	Weak transcription	NH-A	brain
5	chr11:74017000-74019400	Enhancers	Fetal Lung	lung
6	chr11:74017000-74019600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:74017600-74020200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:74017800-74018200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:74017800-74018800	Enhancers	Fetal Brain Male	brain
10	chr11:74017800-74019000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:74017800-74019600	Enhancers	A549	lung
12	chr11:74018000-74018600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:74018000-74019000	Enhancers	Fetal Heart	heart
14	chr11:74018000-74019000	Enhancers	HUVEC	blood vessel

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