Variant report

Variant	rs4652368
Chromosome Location	chr1:179352367-179352368
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179335021..179336555-chr1:179350332..179352693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162779	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10913755	0.80[ASN][1000 genomes]
rs10913760	0.80[ASN][1000 genomes]
rs10913761	0.80[ASN][1000 genomes]
rs10913762	0.80[ASN][1000 genomes]
rs10913766	0.80[ASN][1000 genomes]
rs10913767	0.80[ASN][1000 genomes]
rs10913768	0.80[ASN][1000 genomes]
rs10913769	0.80[ASN][1000 genomes]
rs10913770	0.80[ASN][1000 genomes]
rs10913771	0.80[ASN][1000 genomes]
rs11577579	0.80[ASN][1000 genomes]
rs11578241	0.80[ASN][1000 genomes]
rs11581659	0.88[EUR][1000 genomes]
rs11582255	0.80[ASN][1000 genomes]
rs11582293	0.80[ASN][1000 genomes]
rs11582754	0.80[ASN][1000 genomes]
rs11586744	0.86[ASN][1000 genomes]
rs11802624	0.80[ASN][1000 genomes]
rs11802625	0.80[ASN][1000 genomes]
rs11802637	0.80[ASN][1000 genomes]
rs11807559	0.93[ASN][1000 genomes]
rs12401957	0.80[ASN][1000 genomes]
rs12408443	0.86[ASN][1000 genomes]
rs12409337	0.86[ASN][1000 genomes]
rs12722736	0.80[ASN][1000 genomes]
rs12724496	0.80[ASN][1000 genomes]
rs12724634	0.80[ASN][1000 genomes]
rs12724778	1.00[ASN][1000 genomes]
rs12725414	0.93[ASN][1000 genomes]
rs12726875	0.93[ASN][1000 genomes]
rs12729067	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12729775	0.80[ASN][1000 genomes]
rs12738929	0.80[ASN][1000 genomes]
rs12739116	0.80[ASN][1000 genomes]
rs12741425	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12743585	1.00[ASN][1000 genomes]
rs12744251	0.80[ASN][1000 genomes]
rs12744438	0.93[ASN][1000 genomes]
rs12744949	0.93[ASN][1000 genomes]
rs12746253	0.93[ASN][1000 genomes]
rs12746331	0.93[EUR][1000 genomes]
rs12746578	0.93[ASN][1000 genomes]
rs12750591	0.80[ASN][1000 genomes]
rs12751260	0.93[ASN][1000 genomes]
rs12751550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12755804	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12756624	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12757935	0.86[ASN][1000 genomes]
rs12758415	0.86[ASN][1000 genomes]
rs12760048	0.93[ASN][1000 genomes]
rs12760534	0.93[ASN][1000 genomes]
rs34315375	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35978436	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4130266	0.80[ASN][1000 genomes]
rs4233177	0.93[ASN][1000 genomes]
rs4233178	0.93[ASN][1000 genomes]
rs4261076	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4360491	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4418554	0.86[ASN][1000 genomes]
rs4454499	0.80[ASN][1000 genomes]
rs4651028	0.80[ASN][1000 genomes]
rs61821011	0.80[ASN][1000 genomes]
rs6425536	0.89[EUR][1000 genomes]
rs7513782	0.86[ASN][1000 genomes]
rs7513973	0.86[ASN][1000 genomes]
rs7532155	0.80[ASN][1000 genomes]
rs7551894	0.86[ASN][1000 genomes]
rs7554103	0.86[ASN][1000 genomes]
rs9662026	0.86[ASN][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	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2762031	chr1:179323738-179375197	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv518403	chr1:179323919-179371973	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv548279	chr1:179323919-179390148	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3514400	chr1:179349344-179400533	Enhancers Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3514401	chr1:179349344-179400533	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3451112	chr1:179352344-179400533	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4652368	AXDND1	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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