Variant report

Variant	rs74060300
Chromosome Location	chr12:9189980-9189981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16917975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16918033	1.00[AMR][1000 genomes]
rs16918120	1.00[AMR][1000 genomes]
rs1805748	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805764	1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs56966204	1.00[AMR][1000 genomes]
rs58537365	1.00[AMR][1000 genomes]
rs59792548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60190629	1.00[AMR][1000 genomes]
rs7297635	1.00[AMR][1000 genomes]
rs7304882	1.00[AMR][1000 genomes]
rs74060302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060475	1.00[AMR][1000 genomes]
rs74060477	1.00[AMR][1000 genomes]
rs74060491	1.00[AMR][1000 genomes]
rs74061403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes]
rs74061444	1.00[AMR][1000 genomes]
rs7980046	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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 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	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9188000-9198400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:9188200-9194600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:9188800-9190800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:9188800-9192600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:9188800-9194200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9188800-9194200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:9188800-9195600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:9188800-9195800	Enhancers	Primary T cells from cord blood	blood
10	chr12:9189000-9193200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:9189000-9193600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:9189000-9194200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:9189200-9190800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:9189200-9192800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:9189600-9192600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:9189800-9191800	Enhancers	Primary T cells fromperipheralblood	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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