Variant report

Variant	rs73750218
Chromosome Location	chr5:40986374-40986375
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	chr5:40982776..40984808-chr5:40985903..40987745,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10076653	0.81[EUR][1000 genomes]
rs10473230	0.83[EUR][1000 genomes]
rs1078376	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[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	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1376179	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34153616	1.00[ASN][1000 genomes]
rs56095030	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58796354	0.91[AMR][1000 genomes]
rs60001990	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60714178	0.88[AMR][1000 genomes];0.81[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	0.83[EUR][1000 genomes]
rs73088363	0.83[EUR][1000 genomes]
rs73088577	1.00[ASN][1000 genomes]
rs73750214	1.00[ASN][1000 genomes]
rs73750215	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73750216	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7732104	0.83[EUR][1000 genomes]
rs8264	0.83[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	nsv880339	chr5:40986084-41034181	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 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	chr5:40960400-40989600	Weak transcription	Left Ventricle	heart
4	chr5:40968200-40990400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:40979400-40991000	Weak transcription	Fetal Kidney	kidney
6	chr5:40981000-40988800	Weak transcription	Lung	lung
7	chr5:40982000-40991800	Weak transcription	Spleen	Spleen
8	chr5:40983600-40986600	Weak transcription	Fetal Lung	lung
9	chr5:40984200-40990400	Weak transcription	Ovary	ovary
10	chr5:40985000-40989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:40985000-40990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:40985600-40990400	Weak transcription	Osteobl	bone
13	chr5:40986000-40988800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:40986200-40988600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:40986200-40988800	Weak transcription	NH-A	brain

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