Variant report

Variant	rs57012172
Chromosome Location	chr6:128243930-128243931
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55901601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55926927	1.00[AMR][1000 genomes]
rs56147226	1.00[AMR][1000 genomes]
rs56260230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57917462	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61073619	1.00[AMR][1000 genomes]
rs61477533	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771858	1.00[AMR][1000 genomes]
rs73773927	1.00[AMR][1000 genomes]
rs73773928	1.00[AMR][1000 genomes]
rs73773929	1.00[AMR][1000 genomes]
rs73773932	1.00[AMR][1000 genomes]
rs73773934	1.00[AMR][1000 genomes]
rs73773937	1.00[AMR][1000 genomes]
rs73773942	1.00[AMR][1000 genomes]
rs73773959	1.00[AMR][1000 genomes]
rs73773964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773970	1.00[AMR][1000 genomes]
rs73773971	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773979	1.00[AMR][1000 genomes]
rs73773980	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849854	chr6:128143774-128287313	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1024516	chr6:128184182-128298278	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128235800-128245400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:128239800-128245400	Enhancers	Fetal Thymus	thymus
3	chr6:128240000-128245400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:128240000-128246000	Enhancers	Thymus	Thymus
5	chr6:128240200-128246600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr6:128240400-128245000	Enhancers	Dnd41	blood
7	chr6:128240400-128246800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:128240600-128245200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:128241000-128245600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:128241400-128246800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:128243000-128244800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr6:128243000-128244800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:128243200-128244000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr6:128243600-128244000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:128243600-128245400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:128243800-128246800	Enhancers	Primary T helper cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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