Variant report

Variant	rs73823347
Chromosome Location	chr3:24542443-24542444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:24542394-24542743	K562	blood:	n/a	chr3:24542564-24542577
2	JUND	chr3:24542292-24542555	K562	blood:	n/a	chr3:24542395-24542406 chr3:24542397-24542405 chr3:24542397-24542406 chr3:24542398-24542405 chr3:24542395-24542407
3	JUND	chr3:24542274-24542554	HepG2	liver:	n/a	chr3:24542395-24542406 chr3:24542397-24542405 chr3:24542397-24542406 chr3:24542398-24542405 chr3:24542395-24542407
4	EP300	chr3:24542367-24542669	Hela-S3	cervix:	n/a	chr3:24542396-24542405 chr3:24542397-24542406
5	FOS	chr3:24542345-24542721	MCF10A-Er-Src	breast:	n/a	chr3:24542397-24542405 chr3:24542397-24542406 chr3:24542398-24542405 chr3:24542395-24542407
6	BATF	chr3:24542328-24542507	GM12878	blood:	n/a	chr3:24542398-24542408 chr3:24542394-24542404 chr3:24542397-24542408
7	FOS	chr3:24542261-24542748	MCF10A-Er-Src	breast:	n/a	chr3:24542397-24542405 chr3:24542397-24542406 chr3:24542398-24542405 chr3:24542395-24542407
8	FOS	chr3:24542326-24542719	MCF10A-Er-Src	breast:	n/a	chr3:24542397-24542405 chr3:24542397-24542406 chr3:24542398-24542405 chr3:24542395-24542407
9	CEBPB	chr3:24542366-24542821	A549	lung:	n/a	chr3:24542564-24542577
10	BATF	chr3:24542326-24542490	GM12878	blood:	n/a	chr3:24542398-24542408 chr3:24542394-24542404 chr3:24542397-24542408
11	FOS	chr3:24542284-24542738	MCF10A-Er-Src	breast:	n/a	chr3:24542397-24542405 chr3:24542397-24542406 chr3:24542398-24542405 chr3:24542395-24542407
12	CEBPB	chr3:24542431-24542705	A549	lung:	n/a	chr3:24542564-24542577
13	CEBPB	chr3:24542412-24542695	Hela-S3	cervix:	n/a	chr3:24542564-24542577
14	CEBPB	chr3:24542406-24542720	HepG2	liver:	n/a	chr3:24542564-24542577

No.	Distal block	Cell Line	Cell type
1	chr3:24541584..24544034-chr3:24570108..24572918,2	K562	blood:
2	chr3:23957025..23958935-chr3:24541473..24544270,2	K562	blood:
3	chr3:24534871..24538119-chr3:24541667..24544858,5	MCF-7	breast:
4	chr3:24541351..24543279-chr3:24546883..24549843,2	MCF-7	breast:
5	chr3:24511274..24512903-chr3:24541620..24543538,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272554	TF binding region
ENSG00000197885	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000151090	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17014787	0.82[AFR][1000 genomes]
rs17014855	0.82[AFR][1000 genomes]
rs17014945	0.82[AFR][1000 genomes]
rs17014965	0.82[AFR][1000 genomes]
rs3914944	1.00[AFR][1000 genomes]
rs56083972	1.00[AFR][1000 genomes]
rs56339532	1.00[AFR][1000 genomes]
rs58351306	0.91[AFR][1000 genomes]
rs61283262	1.00[AFR][1000 genomes]
rs73820018	0.82[AFR][1000 genomes]
rs73820022	0.82[AFR][1000 genomes]
rs73823309	1.00[AFR][1000 genomes]
rs73823310	0.91[AFR][1000 genomes]
rs73823329	1.00[AFR][1000 genomes]
rs73823334	1.00[AFR][1000 genomes]
rs73823339	1.00[AFR][1000 genomes]
rs73823343	1.00[AFR][1000 genomes]
rs73823345	1.00[AFR][1000 genomes]
rs73823352	1.00[AFR][1000 genomes]
rs73823368	0.82[AFR][1000 genomes]
rs73823371	0.82[AFR][1000 genomes]
rs73825636	0.91[AFR][1000 genomes]
rs73825637	0.91[AFR][1000 genomes]
rs73825638	0.91[AFR][1000 genomes]
rs73825639	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1012975	chr3:24500706-24615644	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv999384	chr3:24525345-24656873	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24537400-24546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:24537800-24544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:24538000-24543600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:24538200-24547000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:24538200-24552000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:24538200-24560600	Weak transcription	Aorta	Aorta
7	chr3:24538400-24544200	Weak transcription	HMEC	breast
8	chr3:24538400-24549000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:24539000-24544400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:24539000-24547400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:24539000-24560200	Weak transcription	HepG2	liver
12	chr3:24539800-24543800	Weak transcription	Fetal Intestine Large	intestine
13	chr3:24540400-24543600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:24540400-24543600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:24540400-24544200	Weak transcription	Fetal Intestine Small	intestine
16	chr3:24540400-24544200	Weak transcription	K562	blood
17	chr3:24540600-24549000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:24541000-24543400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:24541000-24544200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:24541000-24549000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:24541600-24542800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:24541600-24545800	Weak transcription	Stomach Mucosa	stomach
23	chr3:24541800-24542800	Enhancers	HSMM	muscle
24	chr3:24542000-24542800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:24542000-24542800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:24542200-24543000	Enhancers	NHEK	skin
27	chr3:24542400-24542800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:24542400-24543000	Enhancers	Monocytes-CD14+_RO01746	blood

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