Variant report

Variant	rs73823348
Chromosome Location	chr3:24543789-24543790
allele	A/C
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	ZNF263	chr3:24543233-24543876	HEK293-T-REx	kidney:	n/a	chr3:24543590-24543611

No.	Distal block	Cell Line	Cell type
1	chr3:24543533..24545427-chr3:24547333..24549545,2	K562	blood:
2	chr3:24541584..24544034-chr3:24570108..24572918,2	K562	blood:
3	chr3:24542887..24544808-chr3:24560931..24562501,2	K562	blood:
4	chr3:23957025..23958935-chr3:24541473..24544270,2	K562	blood:
5	chr3:24534871..24538119-chr3:24541667..24544858,5	MCF-7	breast:
6	chr3:24542552..24545017-chr3:24545304..24547564,2	MCF-7	breast:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13078191	0.81[ASN][1000 genomes]
rs17014772	1.00[EUR][1000 genomes]
rs1865710	0.81[ASN][1000 genomes]
rs1865711	0.85[ASN][1000 genomes]
rs55929411	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56783261	0.85[ASN][1000 genomes]
rs57622980	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57751578	0.83[ASN][1000 genomes]
rs58388581	0.85[ASN][1000 genomes]
rs58932894	0.85[ASN][1000 genomes]
rs61063562	0.85[ASN][1000 genomes]
rs61078516	1.00[EUR][1000 genomes]
rs6764938	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6765048	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73152119	0.81[ASN][1000 genomes]
rs73823340	0.85[ASN][1000 genomes]
rs73823356	1.00[EUR][1000 genomes];0.95[ASN][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:30 , 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	chr3:24538200-24547000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:24538200-24552000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:24538200-24560600	Weak transcription	Aorta	Aorta
6	chr3:24538400-24544200	Weak transcription	HMEC	breast
7	chr3:24538400-24549000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:24539000-24544400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:24539000-24547400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:24539000-24560200	Weak transcription	HepG2	liver
11	chr3:24539800-24543800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:24540400-24544200	Weak transcription	Fetal Intestine Small	intestine
13	chr3:24540400-24544200	Weak transcription	K562	blood
14	chr3:24540600-24549000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:24541000-24544200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:24541000-24549000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:24541600-24545800	Weak transcription	Stomach Mucosa	stomach
18	chr3:24542800-24544000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:24542800-24544200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:24542800-24547400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:24542800-24548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:24542800-24549400	Weak transcription	HSMM	muscle
23	chr3:24543000-24544200	Weak transcription	NHEK	skin
24	chr3:24543400-24543800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:24543400-24544600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr3:24543600-24544600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:24543600-24544600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:24543600-24545400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:24543600-24545600	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:24543600-24546000	Enhancers	Primary monocytes fromperipheralblood	blood

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