Variant report

Variant	rs72896778
Chromosome Location	chr11:45669006-45669007
allele	A/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	RELA	chr11:45668986-45669323	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:45668978-45669054	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000255091	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11038595	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11038602	0.94[ASN][1000 genomes]
rs11038604	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038605	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11038611	1.00[AFR][1000 genomes]
rs1992849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277272	0.95[ASN][1000 genomes]
rs3740702	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3802762	0.97[ASN][1000 genomes]
rs4148898	0.95[ASN][1000 genomes]
rs4148902	0.95[ASN][1000 genomes]
rs4148903	0.96[ASN][1000 genomes]
rs4540819	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4755331	0.94[ASN][1000 genomes]
rs72896725	0.88[EUR][1000 genomes]
rs72910683	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72896778	CHST1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45659200-45669400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45663600-45671200	Weak transcription	Spleen	Spleen
3	chr11:45665600-45671000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:45665600-45674400	Weak transcription	HMEC	breast
5	chr11:45665600-45680000	Weak transcription	Gastric	stomach
6	chr11:45665800-45669400	Weak transcription	Left Ventricle	heart
7	chr11:45665800-45670600	Weak transcription	Fetal Brain Female	brain
8	chr11:45665800-45670600	Weak transcription	Right Ventricle	heart
9	chr11:45665800-45671200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:45665800-45671800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:45666200-45671000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:45667400-45669800	Enhancers	HUVEC	blood vessel
13	chr11:45667800-45670600	Weak transcription	Aorta	Aorta
14	chr11:45668600-45670600	Weak transcription	Ovary	ovary
15	chr11:45668600-45671200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:45668800-45669400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:45668800-45670200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:45669000-45669800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:45669000-45669800	Enhancers	Adipose Nuclei	Adipose
20	chr11:45669000-45670000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:45669000-45670600	Weak transcription	Dnd41	blood
22	chr11:45669000-45671200	Weak transcription	Brain Cingulate Gyrus	brain

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