Variant report

Variant	rs56251177
Chromosome Location	chr3:60043597-60043598
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17062072	1.00[AMR][1000 genomes]
rs17062113	1.00[AMR][1000 genomes]
rs17062116	1.00[AMR][1000 genomes]
rs57249968	1.00[AMR][1000 genomes]
rs61172950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6803131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73840544	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7644933	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr3:60034600-60044400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:60038200-60043600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:60041000-60049000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:60042000-60051600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:60042800-60043600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:60042800-60046400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:60042800-60046800	Weak transcription	Thymus	Thymus
8	chr3:60042800-60050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:60043000-60046400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:60043000-60051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:60043200-60043800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:60043200-60045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr3:60043200-60045000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr3:60043200-60046600	Weak transcription	Fetal Thymus	thymus
15	chr3:60043400-60044000	Enhancers	Dnd41	blood
16	chr3:60043400-60044400	Weak transcription	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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