Variant report

Variant	rs2107392
Chromosome Location	chr7:80881566-80881567
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80706504..80708555-chr7:80881256..80882974,2	MCF-7	breast:
2	chr7:80545834..80553200-chr7:80879354..80888784,34	MCF-7	breast:
3	chr7:80880483..80882765-chr7:80886437..80888337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10244235	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254060	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259342	0.83[ASN][1000 genomes]
rs12155276	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12531400	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532462	0.90[EUR][1000 genomes]
rs12533843	0.91[EUR][1000 genomes]
rs12535166	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12707314	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228901	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13229319	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1397005	0.97[ASN][1000 genomes]
rs1397006	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1509913	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1509919	0.90[EUR][1000 genomes]
rs161828	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161829	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161830	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs161831	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161832	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161833	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161834	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161835	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161836	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161837	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs161838	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161839	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161840	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161841	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161842	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161843	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161845	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161847	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs161848	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161849	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162132	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs162133	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162134	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs162135	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs162136	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs162137	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs162138	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17154957	0.90[EUR][1000 genomes]
rs17154966	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17535723	0.94[EUR][1000 genomes]
rs17535787	0.95[EUR][1000 genomes]
rs17535870	0.95[EUR][1000 genomes]
rs1859324	0.90[EUR][1000 genomes]
rs2057776	0.89[EUR][1000 genomes]
rs2107395	0.90[EUR][1000 genomes]
rs2107396	0.90[EUR][1000 genomes]
rs2189557	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2189558	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2189559	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2189561	0.93[ASN][1000 genomes]
rs2214549	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs227873	0.89[EUR][1000 genomes]
rs2367489	0.90[EUR][1000 genomes]
rs245415	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245416	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245417	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245418	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245419	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245420	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs245421	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245422	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245423	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245424	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245425	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245426	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245427	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs245429	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs245430	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245431	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245432	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs245433	0.84[ASN][1000 genomes]
rs245434	0.84[ASN][1000 genomes]
rs245439	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs245442	0.84[ASN][1000 genomes]
rs325966	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs325967	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs325971	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325972	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325973	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs325974	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325975	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs325976	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs327750	0.80[EUR][1000 genomes]
rs327751	0.83[EUR][1000 genomes]
rs34272187	0.90[EUR][1000 genomes]
rs34356376	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34813026	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35177237	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35693390	0.91[EUR][1000 genomes]
rs4728387	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4732201	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4732204	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4732211	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4732237	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55696578	0.80[EUR][1000 genomes]
rs60216102	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62465492	0.84[ASN][1000 genomes]
rs6467649	0.90[ASN][1000 genomes]
rs6965375	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73157461	0.89[EUR][1000 genomes]
rs7455237	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784690	0.98[ASN][1000 genomes]
rs7797691	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7803017	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs976328	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv888558	chr7:80844667-80917148	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv607686	chr7:80857196-80917148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv464608	chr7:80866153-80938045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv607687	chr7:80866153-80938045	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv888559	chr7:80870379-80917148	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv607688	chr7:80870379-80947517	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80870800-80893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80880800-80882400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:80881200-80881600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:80881200-80881600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:80881200-80881600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:80881400-80881600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:80881400-80882000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:80881400-80882400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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