Variant report

Variant	rs73750214
Chromosome Location	chr5:40959959-40959960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:40953904..40955665-chr5:40958137..40961291,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10076653	0.91[EUR][1000 genomes]
rs10473230	0.89[EUR][1000 genomes]
rs1078376	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739984	1.00[ASN][1000 genomes]
rs11741864	1.00[ASN][1000 genomes]
rs12153063	1.00[ASN][1000 genomes]
rs12187430	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1376179	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34153616	1.00[ASN][1000 genomes]
rs56095030	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58796354	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60001990	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60714178	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357602	1.00[ASN][1000 genomes]
rs62357607	1.00[ASN][1000 genomes]
rs62357609	1.00[ASN][1000 genomes]
rs62357613	1.00[ASN][1000 genomes]
rs62357614	1.00[ASN][1000 genomes]
rs62357615	1.00[ASN][1000 genomes]
rs62357644	1.00[ASN][1000 genomes]
rs62357645	1.00[ASN][1000 genomes]
rs62357646	1.00[ASN][1000 genomes]
rs62357647	1.00[ASN][1000 genomes]
rs62358578	1.00[ASN][1000 genomes]
rs6451554	0.89[EUR][1000 genomes]
rs73088363	0.89[EUR][1000 genomes]
rs73088577	1.00[ASN][1000 genomes]
rs73750215	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73750216	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73750218	1.00[ASN][1000 genomes]
rs7732104	0.89[EUR][1000 genomes]
rs8264	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv880796	chr5:40934832-40985604	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73750214	TTC33	cis	brain	BrainEAC

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40954800-40968000	Strong transcription	Ovary	ovary
4	chr5:40955200-40967600	Strong transcription	Fetal Lung	lung
5	chr5:40958400-40960000	ZNF genes & repeats	Fetal Intestine Large	intestine
6	chr5:40958400-40960400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:40959200-40960000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:40959400-40960000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:40959400-40960000	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr5:40959400-40960200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:40959600-40960000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:40959600-40960000	ZNF genes & repeats	Pancreas	Pancrea
13	chr5:40959600-40960400	ZNF genes & repeats	Left Ventricle	heart
14	chr5:40959800-40960800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:40959800-40966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:40959800-40976400	Weak transcription	Fetal Stomach	stomach
17	chr5:40959800-40980800	Weak transcription	Lung	lung

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