Variant report

Variant	rs573521
Chromosome Location	chr11:102716980-102716981
allele	C/T
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	ZNF263	chr11:102716840-102717181	HEK293-T-REx	kidney:	n/a	chr11:102716962-102716983
2	EP300	chr11:102716819-102717602	SK-N-SH	brain:	n/a	chr11:102717338-102717346 chr11:102717015-102717029 chr11:102717456-102717470
3	PBX3	chr11:102716957-102717527	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr11:102716815-102717617	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr11:102716960-102717524	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr11:102716814-102717588	SK-N-SH	brain:	n/a	chr11:102717005-102717012
7	NFIC	chr11:102716853-102717606	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr11:102716900-102717614	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr11:102716904-102717495	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr11:102716940-102717460	SK-N-SH_RA	brain:	n/a	chr11:102717338-102717346 chr11:102717015-102717029
11	PBX3	chr11:102716913-102717445	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
MMP3	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1010698	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10791596	0.81[ASN][1000 genomes]
rs10895364	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895365	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895366	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11225434	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144396	0.81[ASN][1000 genomes]
rs12792871	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12801529	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12804136	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2097248	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2155013	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2212637	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4754884	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs520540	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs565082	0.82[ASN][1000 genomes]
rs575027	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs591058	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs595840	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs602128	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs617819	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs632478	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs633962	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs635746	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs639752	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs645419	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6590993	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6590994	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs666734	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs678815	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679620	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7117013	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7126392	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs756544	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7926920	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7946057	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[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	nsv898335	chr11:102682285-102866158	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cerebrospinal fluid levels of Alzheimer's disease-related proteins	25340798	GWAS catalog

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102714400-102720000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:102714400-102721600	Weak transcription	NH-A	brain
3	chr11:102714600-102719400	Weak transcription	HMEC	breast
4	chr11:102714600-102719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:102714600-102719800	Weak transcription	Osteobl	bone
6	chr11:102714600-102720000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:102714800-102719800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:102715000-102719600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:102715000-102720200	Weak transcription	NHLF	lung
10	chr11:102715200-102721400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:102715400-102719800	Weak transcription	NHDF-Ad	bronchial
12	chr11:102716400-102717400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:102716800-102717400	Enhancers	Fetal Stomach	stomach
14	chr11:102716800-102717400	Enhancers	Stomach Mucosa	stomach
15	chr11:102716800-102717400	Enhancers	Hela-S3	cervix
16	chr11:102716800-102718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:102716800-102718000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:102716800-102718400	Enhancers	NHEK	skin

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