Variant report

Variant	rs2057776
Chromosome Location	chr7:80926962-80926963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80783452..80785528-chr7:80926720..80928385,2	MCF-7	breast:
2	chr7:80546874..80550922-chr7:80925118..80930424,9	MCF-7	breast:
3	chr7:80926765..80932056-chr7:80932265..80936862,6	MCF-7	breast:
4	chr7:80545023..80546790-chr7:80924947..80927882,2	MCF-7	breast:
5	chr7:80551995..80554963-chr7:80926459..80929330,3	MCF-7	breast:
6	chr7:80546953..80552293-chr7:80925082..80929402,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1012950	0.88[ASN][1000 genomes]
rs1015885	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10235727	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10244235	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10254060	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10259342	0.81[ASN][1000 genomes]
rs10954564	0.92[ASN][1000 genomes]
rs12155276	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12531400	0.84[EUR][1000 genomes]
rs12532462	0.81[EUR][1000 genomes]
rs12533843	0.83[EUR][1000 genomes]
rs12535166	0.82[EUR][1000 genomes]
rs12707314	0.88[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs13228901	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13229319	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1397005	0.81[JPT][hapmap]
rs1397006	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1509913	0.81[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs1509919	0.81[EUR][1000 genomes]
rs161828	0.85[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs161829	0.85[EUR][1000 genomes]
rs161830	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs161831	0.85[EUR][1000 genomes]
rs161832	0.85[EUR][1000 genomes]
rs161833	0.85[EUR][1000 genomes]
rs161834	0.85[EUR][1000 genomes]
rs161835	0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs161836	0.85[EUR][1000 genomes]
rs161837	0.85[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs161838	0.89[EUR][1000 genomes]
rs161839	0.85[EUR][1000 genomes]
rs161840	0.85[EUR][1000 genomes]
rs161841	0.85[EUR][1000 genomes]
rs161842	0.85[EUR][1000 genomes]
rs161843	0.85[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs161845	0.85[EUR][1000 genomes]
rs161848	0.85[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs161849	0.84[EUR][1000 genomes]
rs162132	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs162133	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs162134	0.88[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs162135	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs162136	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs162137	0.88[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs162138	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17154957	0.81[EUR][1000 genomes]
rs17154966	0.82[EUR][1000 genomes]
rs17535723	0.85[EUR][1000 genomes]
rs17535787	0.86[EUR][1000 genomes]
rs17535870	0.86[EUR][1000 genomes]
rs17626401	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1859324	0.82[EUR][1000 genomes]
rs2107392	0.89[EUR][1000 genomes]
rs2107395	0.81[EUR][1000 genomes]
rs2107396	0.81[EUR][1000 genomes]
rs2189557	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2189558	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2189559	0.84[EUR][1000 genomes]
rs2189565	0.87[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap]
rs2214549	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs227873	0.81[EUR][1000 genomes]
rs2367489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs245415	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs245416	0.85[EUR][1000 genomes]
rs245417	0.85[EUR][1000 genomes]
rs245418	0.85[EUR][1000 genomes]
rs245419	0.85[CEU][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes]
rs245420	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs245421	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs245422	0.85[EUR][1000 genomes]
rs245423	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs245424	0.85[EUR][1000 genomes]
rs245425	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs245426	0.83[EUR][1000 genomes]
rs245427	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs245429	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs245430	0.86[EUR][1000 genomes]
rs245431	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs245432	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs245439	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs245440	0.90[ASN][1000 genomes]
rs245441	0.89[ASN][1000 genomes]
rs2886992	0.93[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs325966	0.81[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs325967	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs325971	0.84[EUR][1000 genomes]
rs325972	0.85[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs325973	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs325974	0.85[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs325975	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs325976	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs34272187	0.81[EUR][1000 genomes]
rs34356376	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34813026	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35177237	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35693390	0.83[EUR][1000 genomes]
rs4728387	0.84[EUR][1000 genomes]
rs4732201	0.82[EUR][1000 genomes]
rs4732204	0.84[EUR][1000 genomes]
rs4732211	0.88[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4732237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60216102	0.86[EUR][1000 genomes]
rs6943816	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6947842	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6948864	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6950573	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs6962364	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965375	0.84[EUR][1000 genomes]
rs73157461	0.81[EUR][1000 genomes]
rs7455237	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7797691	0.83[EUR][1000 genomes]
rs7803017	0.81[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs976328	0.81[CEU][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs995353	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	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	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
3	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
4	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
5	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
6	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
7	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80913200-80928800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:80914400-80928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:80921800-80927800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:80923400-80928200	Weak transcription	HSMMtube	muscle
5	chr7:80924800-80928200	Weak transcription	HSMM	muscle
6	chr7:80925800-80928200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:80925800-80932800	Enhancers	Fetal Intestine Large	intestine
8	chr7:80926000-80929000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80926200-80927200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:80926200-80928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:80926200-80930200	Enhancers	Osteobl	bone
12	chr7:80926200-80930400	Enhancers	NHDF-Ad	bronchial
13	chr7:80926400-80930400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:80926800-80927000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:80926800-80927000	Enhancers	Adipose Nuclei	Adipose
16	chr7:80926800-80927000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:80926800-80927000	Enhancers	Stomach Smooth Muscle	stomach
18	chr7:80926800-80927200	Enhancers	NHLF	lung
19	chr7:80926800-80928200	Enhancers	A549	lung

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