Variant report

Variant	rs10753206
Chromosome Location	chr1:180113196-180113197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180112122..180113810-chr1:180124529..180126032,2	MCF-7	breast:
2	chr1:180092523..180095590-chr1:180111279..180113667,3	K562	blood:
3	chr1:180111136..180114017-chr1:180135288..180137441,2	K562	blood:

Variant related genes	Relation type
ENSG00000261817	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10798729	0.80[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs10798730	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798732	0.92[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913917	0.81[CEU][hapmap]
rs10913927	0.81[CEU][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs10913931	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12027335	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12040314	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12040376	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12080763	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2477112	0.81[CEU][hapmap]
rs2477118	0.81[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs2501607	0.81[CEU][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs2501611	0.81[CEU][hapmap]
rs2501613	0.81[CEU][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs2501617	0.80[MEX][hapmap];0.86[TSI][hapmap]
rs2762859	0.80[CEU][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap]
rs3767200	0.85[EUR][1000 genomes]
rs3767202	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3818999	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs3930305	0.84[EUR][1000 genomes]
rs4076449	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs4147169	0.82[EUR][1000 genomes]
rs4256775	0.81[CEU][hapmap]
rs4336810	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4506429	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651057	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4652462	0.81[EUR][1000 genomes]
rs4652463	0.84[EUR][1000 genomes]
rs4652465	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs4652471	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4652472	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4652473	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4652475	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs483307	0.81[CEU][hapmap]
rs510209	0.80[CEU][hapmap]
rs60905477	0.85[ASN][1000 genomes]
rs6425603	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs6425609	0.84[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657347	0.81[CEU][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6691060	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691435	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7525385	0.86[EUR][1000 genomes]
rs7528811	0.88[ASW][hapmap];0.88[CEU][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7551181	0.92[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7551902	0.81[CEU][hapmap];0.84[CHD][hapmap];0.90[MEX][hapmap];0.85[ASN][1000 genomes]
rs9286932	0.81[CEU][hapmap];0.86[TSI][hapmap]
rs9425481	0.82[EUR][1000 genomes]
rs9425482	0.84[EUR][1000 genomes]
rs9425483	0.86[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9425485	0.82[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9425486	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425489	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425849	0.81[CEU][hapmap]
rs9425854	0.81[CEU][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap]
rs9425855	0.81[EUR][1000 genomes]
rs9425856	0.81[EUR][1000 genomes]
rs9425860	0.81[EUR][1000 genomes]
rs9425861	0.90[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs9425863	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9425866	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425868	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10753206	ASTN1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180111800-180114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:180112400-180113200	Enhancers	NHEK	skin
3	chr1:180112400-180114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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