Variant report

Variant	rs34547573
Chromosome Location	chr3:196231308-196231309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr3:196230715-196231499	Hela-S3	cervix:	n/a	n/a
2	HCFC1	chr3:196227811-196231575	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr3:196226798-196231604	SK-N-SH	brain:	n/a	n/a
4	NRF1	chr3:196229856-196231344	SK-N-SH	brain:	n/a	chr3:196230569-196230578 chr3:196230736-196230745 chr3:196230489-196230496

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:196014537..196016415-chr3:196229117..196231929,2	MCF-7	breast:
2	chr3:196228328..196231500-chr3:196241253..196244010,3	MCF-7	breast:
3	chr3:195808495..195810108-chr3:196228997..196231874,2	K562	blood:
4	chr3:196230868..196233512-chr3:196236802..196239351,2	K562	blood:
5	chr3:195808373..195809995-chr3:196228997..196231632,2	K562	blood:
6	chr3:196228489..196231887-chr3:196292830..196296417,3	MCF-7	breast:
7	chr3:196228351..196232071-chr3:196294107..196297178,4	MCF-7	breast:
8	chr3:196064683..196067033-chr3:196229952..196232006,2	K562	blood:
9	chr3:196014550..196016725-chr3:196229110..196232092,4	K562	blood:

No data

Variant related genes	Relation type
RNF168	TF binding region
ENSG00000161217	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000214097	Chromatin interaction
ENSG00000174013	Chromatin interaction
ENSG00000185798	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000273331	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12632592	0.80[EUR][1000 genomes]
rs13099664	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4244200	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55997345	0.80[EUR][1000 genomes]
rs7430950	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9837291	0.90[ASN][1000 genomes]
rs9843876	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9844068	0.80[ASN][1000 genomes]
rs9856006	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9869437	0.86[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	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34547573	FBXO45	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196225800-196231600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:196227200-196231400	Active TSS	Fetal Muscle Trunk	muscle
3	chr3:196227200-196231600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:196227400-196231400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr3:196227400-196231400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:196227400-196231400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:196227400-196231600	Active TSS	Fetal Brain Female	brain
8	chr3:196227600-196231400	Active TSS	HUVEC	blood vessel
9	chr3:196228800-196231600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:196230200-196231400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr3:196230200-196231600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:196230600-196231400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:196230800-196231400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr3:196230800-196231400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:196231000-196231400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:196231000-196231400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:196231000-196231400	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:196231000-196231400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:196231000-196231400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr3:196231000-196231400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:196231000-196231400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:196231000-196231400	Enhancers	Fetal Thymus	thymus
23	chr3:196231000-196231400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:196231000-196231400	Enhancers	Small Intestine	intestine
25	chr3:196231000-196231400	Flanking Active TSS	GM12878-XiMat	blood
26	chr3:196231000-196231400	Enhancers	NHDF-Ad	bronchial
27	chr3:196231000-196231600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:196231000-196231600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:196231000-196231600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:196231000-196231600	Flanking Active TSS	Hela-S3	cervix
31	chr3:196231000-196232200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:196231000-196232800	Weak transcription	Fetal Lung	lung
33	chr3:196231000-196233600	Weak transcription	Aorta	Aorta
34	chr3:196231000-196233600	Weak transcription	Spleen	Spleen
35	chr3:196231200-196231400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr3:196231200-196231400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:196231200-196231400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr3:196231200-196231400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:196231200-196231400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:196231200-196231400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:196231200-196231400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr3:196231200-196231400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr3:196231200-196231400	Enhancers	Adipose Nuclei	Adipose
44	chr3:196231200-196231400	Enhancers	Liver	Liver
45	chr3:196231200-196231400	Enhancers	Colonic Mucosa	Colon
46	chr3:196231200-196231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:196231200-196231400	Flanking Active TSS	Fetal Kidney	kidney
48	chr3:196231200-196231400	Enhancers	Placenta	Placenta
49	chr3:196231200-196231400	Enhancers	Fetal Stomach	stomach
50	chr3:196231200-196231400	Flanking Active TSS	K562	blood

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