Variant report

Variant	rs2121553
Chromosome Location	chr8:105193616-105193617
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	chr8:105173950..105176285-chr8:105193428..105195940,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1156813	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1158644	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1374517	1.00[CEU][hapmap]
rs1374519	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447063	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447079	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1447080	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447081	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447082	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1470522	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1868012	0.81[AFR][1000 genomes]
rs1868015	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2028946	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2044532	0.81[AFR][1000 genomes]
rs2121548	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2121554	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2166641	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2166643	0.81[AFR][1000 genomes]
rs2166644	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2166645	0.81[AFR][1000 genomes]
rs2441792	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441793	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441797	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441798	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441799	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441804	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441810	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441822	0.91[EUR][1000 genomes]
rs2441836	0.81[AFR][1000 genomes]
rs2441837	0.81[AFR][1000 genomes]
rs2441864	0.81[AFR][1000 genomes]
rs2441892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441897	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441906	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511565	1.00[CEU][hapmap]
rs2511567	1.00[CEU][hapmap]
rs2511578	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511579	0.94[EUR][1000 genomes]
rs2511581	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511582	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511583	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511592	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2511593	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2511596	0.91[EUR][1000 genomes]
rs2511599	0.91[EUR][1000 genomes]
rs2511600	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2511601	0.91[EUR][1000 genomes]
rs2511607	0.81[AFR][1000 genomes]
rs2511608	0.81[AFR][1000 genomes]
rs2511611	0.81[AFR][1000 genomes]
rs2511628	0.81[AFR][1000 genomes]
rs2511629	0.81[AFR][1000 genomes]
rs2511647	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs994065	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105188400-105211800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:105190800-105196200	Weak transcription	NHEK	skin
3	chr8:105191000-105196200	Weak transcription	HMEC	breast
4	chr8:105192600-105193800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:105192800-105196000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:105193200-105197400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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