Variant report

Variant	rs6439469
Chromosome Location	chr3:133980077-133980078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133977645..133980911-chr3:133983363..133985733,3	K562	blood:
2	chr3:133970945..133973560-chr3:133978440..133980451,2	MCF-7	breast:
3	chr3:133974150..133976164-chr3:133978599..133981177,2	K562	blood:
4	chr3:133967655..133972070-chr3:133976026..133980689,5	K562	blood:
5	chr3:133978478..133980615-chr3:133997511..133999721,2	MCF-7	breast:
6	chr3:133968218..133970058-chr3:133977854..133980102,2	MCF-7	breast:
7	chr3:133974132..133976006-chr3:133978715..133981002,2	K562	blood:
8	chr3:133979281..133981690-chr3:134092190..134095053,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114019	Chromatin interaction
ENSG00000163785	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10935104	0.86[ASN][1000 genomes]
rs12635994	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13068409	0.85[ASN][1000 genomes]
rs13099506	0.89[ASN][1000 genomes]
rs28514329	0.92[ASN][1000 genomes]
rs35015318	0.83[AMR][1000 genomes]
rs35111284	0.93[ASN][1000 genomes]
rs35775034	0.84[ASN][1000 genomes]
rs4077158	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4077643	0.93[ASN][1000 genomes]
rs4280635	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4404422	0.93[ASN][1000 genomes]
rs6439464	0.86[ASN][1000 genomes]
rs67022177	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6783086	0.93[ASN][1000 genomes]
rs6783294	0.91[ASN][1000 genomes]
rs6786384	0.82[ASN][1000 genomes]
rs6795164	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6796404	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6804370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73215351	0.82[ASN][1000 genomes]
rs7429840	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7623609	0.89[ASN][1000 genomes]
rs7639683	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7641162	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9809556	0.93[ASN][1000 genomes]
rs9822076	0.86[ASN][1000 genomes]
rs9822469	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9822749	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9829505	0.91[ASN][1000 genomes]
rs9839609	0.93[ASN][1000 genomes]
rs9846664	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9846871	0.84[AMR][1000 genomes]
rs9858000	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9859680	0.92[ASN][1000 genomes]
rs9865808	0.93[ASN][1000 genomes]
rs9880098	0.93[ASN][1000 genomes]
rs9881896	0.91[ASN][1000 genomes]
rs9882168	0.89[ASN][1000 genomes]
rs9882590	0.85[ASN][1000 genomes]
rs9882927	0.85[ASN][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133978200-133980200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:133979400-133980400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:133979400-133980800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:133979400-133981000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:133979600-133980400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:133979600-133980400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr3:133979600-133980600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:133979600-133980800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:133979600-133980800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr3:133979600-133981000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:133979600-133981000	Enhancers	Hela-S3	cervix
12	chr3:133979800-133980200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:133979800-133980200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:133979800-133980200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:133979800-133980200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:133979800-133980200	Enhancers	Psoas Muscle	Psoas
17	chr3:133979800-133981000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:133979800-133981000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:133980000-133980200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:133980000-133980200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:133980000-133980200	Enhancers	NHEK	skin
22	chr3:133980000-133980400	Enhancers	HepG2	liver
23	chr3:133980000-133980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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