Variant report

Variant	rs73299498
Chromosome Location	chr12:47783293-47783294
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	chr12:47777847..47780097-chr12:47782346..47783889,2	K562	blood:
2	chr12:47763544..47766540-chr12:47781917..47783606,2	K562	blood:

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[ASN][1000 genomes]
rs12317213	0.95[ASN][1000 genomes]
rs1881743	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919719	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2141519	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698776	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905485	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785577	0.95[ASN][1000 genomes]
rs73299470	0.95[ASN][1000 genomes]
rs73299471	0.95[ASN][1000 genomes]
rs7955860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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
rs73299498	RP11-493L12.6	cis	Whole Blood	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47771600-47786800	Weak transcription	Fetal Brain Male	brain
2	chr12:47773400-47784400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:47777800-47784400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
5	chr12:47778200-47784400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:47778800-47786400	Weak transcription	HUVEC	blood vessel
7	chr12:47779600-47784800	Weak transcription	A549	lung
8	chr12:47779800-47785800	Weak transcription	Fetal Brain Female	brain
9	chr12:47779800-47786000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:47781800-47784400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:47781800-47784400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:47782800-47783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:47782800-47784000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:47782800-47785400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:47783000-47783400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:47783000-47786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:47783200-47783600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:47783200-47787000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:47783200-47787400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:47783200-47787800	Weak transcription	H1 Cell Line	embryonic stem cell

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