Variant report

Variant	rs4848355
Chromosome Location	chr2:114600012-114600013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114513011..114515179-chr2:114599381..114601639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10199075	0.81[EUR][1000 genomes]
rs1028246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13006901	0.85[EUR][1000 genomes]
rs13021259	0.81[EUR][1000 genomes]
rs1403400	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34244501	0.81[EUR][1000 genomes]
rs34267159	0.83[EUR][1000 genomes]
rs34278749	0.81[EUR][1000 genomes]
rs34767335	0.81[EUR][1000 genomes]
rs34859032	0.85[EUR][1000 genomes]
rs34868595	0.81[EUR][1000 genomes]
rs4241125	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171765	0.81[EUR][1000 genomes]
rs62171766	0.81[EUR][1000 genomes]
rs6542176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66563583	0.81[EUR][1000 genomes]
rs67368963	0.83[EUR][1000 genomes]
rs6743807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72835421	0.83[EUR][1000 genomes]
rs7573922	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4848355	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114574200-114603600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:114586400-114601000	Weak transcription	Primary T cells from cord blood	blood
3	chr2:114589200-114600200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:114589200-114600200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:114589200-114600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:114596400-114621000	Weak transcription	Aorta	Aorta
7	chr2:114596600-114603400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:114596600-114611600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:114597400-114600200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:114598200-114600800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:114599200-114600200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:114599200-114600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:114599200-114600400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:114600000-114600200	Enhancers	NHDF-Ad	bronchial
17	chr2:114600000-114600600	Enhancers	HMEC	breast
18	chr2:114600000-114601800	Enhancers	Placenta	Placenta
19	chr2:114600000-114602600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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