Variant report

Variant	rs56039229
Chromosome Location	chr4:76947042-76947043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76944817..76946865-chr4:76946950..76949448,2	MCF-7	breast:
2	chr4:76946217..76947878-chr4:76952883..76955086,2	K562	blood:
3	chr4:76946437..76948310-chr4:76949313..76951131,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10222911	0.85[ASN][1000 genomes]
rs1050176	0.88[ASN][1000 genomes]
rs10856871	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11097192	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12500200	0.88[ASN][1000 genomes]
rs12511861	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1554015	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17001275	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17001284	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1910907	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2869461	0.88[ASN][1000 genomes]
rs28703679	0.85[ASN][1000 genomes]
rs35353995	0.80[AFR][1000 genomes]
rs3733236	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4404571	0.85[AMR][1000 genomes]
rs4859412	0.85[ASN][1000 genomes]
rs55964684	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56105413	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56316945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909712	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59559903	0.81[AMR][1000 genomes]
rs61279846	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6532084	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs66477189	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67210456	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67297326	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67308118	0.82[AMR][1000 genomes]
rs67413521	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67687266	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6828744	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6834291	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6847716	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6857358	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6857378	0.86[AMR][1000 genomes]
rs72651379	0.82[AMR][1000 genomes]
rs72651387	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7349626	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7670156	0.88[ASN][1000 genomes]
rs7671125	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7671209	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7679689	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7684879	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7696286	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56039229	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76944800-76949200	Weak transcription	Fetal Lung	lung
2	chr4:76944800-76949600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:76945000-76949200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:76945200-76949600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:76945400-76949200	Weak transcription	Adipose Nuclei	Adipose
6	chr4:76945400-76949200	Weak transcription	Liver	Liver
7	chr4:76945400-76949600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:76945600-76949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:76945600-76949600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:76945800-76949200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:76945800-76949200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:76945800-76949400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:76945800-76949600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:76946000-76949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:76946200-76949200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:76946200-76949200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:76946400-76949200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:76946400-76949400	Weak transcription	Primary hematopoietic stem cells	blood

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