Variant report

Variant	rs60785577
Chromosome Location	chr12:47762108-47762109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12313866	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317213	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881743	0.95[ASN][1000 genomes]
rs1919719	0.95[ASN][1000 genomes]
rs2141519	0.95[ASN][1000 genomes]
rs2698776	0.95[ASN][1000 genomes]
rs2905485	0.95[ASN][1000 genomes]
rs73299470	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299471	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299498	0.95[ASN][1000 genomes]
rs7955860	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60785577	RP11-493L12.6	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47755600-47762200	Weak transcription	Thymus	Thymus
2	chr12:47755800-47763000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:47756200-47771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:47756800-47762200	Weak transcription	Fetal Thymus	thymus
5	chr12:47756800-47763200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:47756800-47763200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:47759000-47762800	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:47759200-47763400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:47759800-47763200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:47760200-47763200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:47760400-47762800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:47760400-47763000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:47761200-47762800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr12:47761200-47763400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:47761400-47762400	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr12:47761600-47762200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:47761600-47762600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:47761600-47762800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:47761800-47762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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Input of quick search could be:

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

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