Variant report

Variant	rs34474249
Chromosome Location	chr17:18074525-18074526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18060337..18062169-chr17:18073644..18075666,2	MCF-7	breast:
2	chr17:18052063..18054995-chr17:18074493..18076431,2	K562	blood:
3	chr17:18072851..18075465-chr17:18084939..18088201,4	K562	blood:
4	chr17:18072868..18077366-chr17:18083482..18088820,6	K562	blood:
5	chr17:18073351..18074986-chr17:18087194..18088873,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266677	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000091542	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10048161	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10451244	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11078411	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11078412	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11652964	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11653988	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11654146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11654177	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11654741	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11655588	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11655731	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11655797	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11656035	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11657194	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11658477	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11868832	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11868886	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11871039	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11871491	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12600694	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13284	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1563371	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1563373	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960980	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16960983	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16960986	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16960990	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960996	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2015336	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28811342	0.93[EUR][1000 genomes]
rs3088233	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36058389	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55918833	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58441148	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59354912	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60285171	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62072464	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072465	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072466	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072467	0.92[EUR][1000 genomes]
rs62072468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62072496	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072497	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072498	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072500	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073602	0.92[EUR][1000 genomes]
rs62073603	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073604	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073605	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073606	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073607	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073609	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073611	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073615	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62073649	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073650	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6502640	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7207276	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs735960	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8065026	0.91[EUR][1000 genomes]
rs8069094	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8077577	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9916193	0.91[EUR][1000 genomes]
rs997315	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr17:18062000-18085600	Weak transcription	Brain Angular Gyrus	brain
2	chr17:18062200-18085000	Weak transcription	Right Atrium	heart
3	chr17:18064800-18085400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:18070000-18075200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:18070400-18075000	Weak transcription	Ovary	ovary
6	chr17:18071200-18076200	Weak transcription	Spleen	Spleen
7	chr17:18071200-18084800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:18071800-18082000	Weak transcription	Fetal Intestine Small	intestine
9	chr17:18072400-18085400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:18072800-18085000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:18073600-18076800	Weak transcription	Liver	Liver
12	chr17:18074200-18076000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr17:18074400-18074600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:18074400-18075400	Enhancers	HepG2	liver

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