Variant report

Variant	rs34153951
Chromosome Location	chr3:138316357-138316358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr3:138316126-138316614	A549	lung:	n/a	n/a
2	NR3C1	chr3:138316200-138316713	A549	lung:	n/a	n/a
3	NR3C1	chr3:138316237-138316596	A549	lung:	n/a	n/a
4	PBX3	chr3:138316353-138316472	GM12878	blood:	n/a	n/a
5	NR3C1	chr3:138316291-138316513	A549	lung:	n/a	n/a
6	SP1	chr3:138316246-138316518	HepG2	liver:	n/a	n/a
7	NR3C1	chr3:138316277-138316604	A549	lung:	n/a	n/a
8	PAX5	chr3:138316334-138316480	GM12878	blood:	n/a	n/a
9	NR3C1	chr3:138316203-138316551	A549	lung:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138313714..138315292-chr3:138315408..138318314,2	K562	blood:
2	chr3:138308891..138310571-chr3:138313902..138316460,2	K562	blood:
3	chr3:138310314..138312413-chr3:138315463..138317379,2	MCF-7	breast:

No data

Variant related genes	Relation type
CEP70	TF binding region
ENSG00000114107	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11916525	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12630060	0.83[EUR][1000 genomes]
rs12630144	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12632793	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12632794	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12635354	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12635490	0.83[EUR][1000 genomes]
rs12635904	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12636936	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12637638	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12637679	0.83[EUR][1000 genomes]
rs13059817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13062423	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13067095	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13067864	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13069355	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13072751	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13073978	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13077766	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13084780	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093668	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13095122	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13095125	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1563615	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1672928	0.82[ASN][1000 genomes]
rs1672931	0.84[ASN][1000 genomes]
rs1672936	0.83[ASN][1000 genomes]
rs2085446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2085447	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280596	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34011134	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34284415	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34316974	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34377792	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34416776	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34482601	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34583117	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34607531	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34640717	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34652182	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34878008	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35034861	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35269190	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35340237	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35489558	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35537868	0.83[EUR][1000 genomes]
rs35549884	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35597846	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35834585	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35876758	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35906980	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3773748	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56028542	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56654955	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57516770	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58873565	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59184769	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59371015	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60371967	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60426689	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61258082	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61662147	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs654528	0.84[ASN][1000 genomes]
rs66775405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67390774	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67666216	0.89[ASN][1000 genomes]
rs6784770	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73229540	0.87[ASN][1000 genomes]
rs773455	0.86[ASN][1000 genomes]
rs9049	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9880928	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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
2	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS 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
5	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv3429877	chr3:138272946-138325019	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138313600-138327200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:138313800-138319000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:138313800-138327200	Weak transcription	Psoas Muscle	Psoas
4	chr3:138314000-138319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:138314000-138319000	Weak transcription	Osteobl	bone
6	chr3:138314000-138319200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:138314000-138321400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:138314000-138327000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr3:138314000-138327200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:138314200-138319200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:138314200-138319400	Weak transcription	Stomach Mucosa	stomach
12	chr3:138314200-138327000	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:138315000-138316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:138315000-138317000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:138315400-138317200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:138315800-138316400	Enhancers	Pancreas	Pancrea
17	chr3:138315800-138316400	Enhancers	GM12878-XiMat	blood
18	chr3:138316000-138316400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:138316000-138317000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:138316000-138317200	Enhancers	Liver	Liver
21	chr3:138316000-138317200	Enhancers	HepG2	liver
22	chr3:138316200-138316400	Enhancers	Gastric	stomach
23	chr3:138316200-138316600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:138316200-138317000	Enhancers	Rectal Mucosa Donor 31	rectum

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