Variant report

Variant	rs73823343
Chromosome Location	chr3:24534843-24534844
allele	A/G
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	chr3:24534723-24535055	HepG2	liver:	n/a	chr3:24534900-24534913 chr3:24534882-24534893
2	STAT3	chr3:24534741-24534941	MCF10A-Er-Src	breast:	n/a	chr3:24534772-24534781
3	FOS	chr3:24534588-24535050	MCF10A-Er-Src	breast:	n/a	chr3:24534588-24534600
4	POLR2A	chr3:24534706-24534906	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr3:24534716-24535008	K562	blood:	n/a	chr3:24534900-24534913 chr3:24534882-24534893
6	CEBPB	chr3:24534733-24535068	Hela-S3	cervix:	n/a	chr3:24534900-24534913 chr3:24534882-24534893
7	FOS	chr3:24534717-24535048	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:24534554-24538147	PBDE	blood:	n/a	n/a
9	MYC	chr3:24534651-24535078	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr3:24534748-24535127	MCF10A-Er-Src	breast:	n/a	n/a
11	ARID3A	chr3:24534654-24536907	HepG2	liver:	n/a	n/a
12	FOS	chr3:24534717-24534941	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr3:24534741-24534998	MCF10A-Er-Src	breast:	n/a	chr3:24534772-24534781
14	FOS	chr3:24534745-24534922	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:24313227..24314767-chr3:24532940..24535103,2	MCF-7	breast:
2	chr3:23958569..23960911-chr3:24534140..24537048,3	MCF-7	breast:
3	chr3:24534533..24538643-chr3:24561395..24564731,10	MCF-7	breast:
4	chr3:24534014..24541118-chr3:24556364..24565705,22	MCF-7	breast:
5	chr3:24506686..24508341-chr3:24532233..24535009,2	K562	blood:

Variant related genes	Relation type
THRB-AS1	TF binding region
ENSG00000174748	Chromatin interaction
ENSG00000265028	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11918134	1.00[EUR][1000 genomes]
rs11919187	1.00[EUR][1000 genomes]
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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56083972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56339532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58351306	0.91[AFR][1000 genomes]
rs61283262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73820018	0.82[AFR][1000 genomes]
rs73820022	0.82[AFR][1000 genomes]
rs73823309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823310	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823336	1.00[EUR][1000 genomes]
rs73823337	1.00[EUR][1000 genomes]
rs73823338	1.00[EUR][1000 genomes]
rs73823339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823345	1.00[AFR][1000 genomes]
rs73823347	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24527600-24535400	Weak transcription	Lung	lung
2	chr3:24529400-24535000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:24529800-24535200	Weak transcription	NHEK	skin
4	chr3:24532200-24535000	Weak transcription	Hela-S3	cervix
5	chr3:24532200-24535200	Weak transcription	Right Atrium	heart
6	chr3:24532200-24535400	Weak transcription	Pancreas	Pancrea
7	chr3:24533400-24535000	Weak transcription	Right Ventricle	heart
8	chr3:24533400-24535200	Weak transcription	Left Ventricle	heart
9	chr3:24533600-24535400	Active TSS	Fetal Intestine Large	intestine
10	chr3:24533600-24535600	Active TSS	Fetal Intestine Small	intestine
11	chr3:24533600-24537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:24533600-24537800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr3:24533800-24535000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:24533800-24535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:24533800-24535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:24533800-24535400	Weak transcription	Esophagus	oesophagus
17	chr3:24533800-24535400	Bivalent/Poised TSS	Fetal Brain Male	brain
18	chr3:24533800-24535400	Bivalent/Poised TSS	Fetal Brain Female	brain
19	chr3:24533800-24535400	Weak transcription	Gastric	stomach
20	chr3:24533800-24537000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr3:24533800-24537400	Active TSS	Brain Angular Gyrus	brain
22	chr3:24534000-24535200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:24534000-24535200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:24534000-24537000	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr3:24534000-24537000	Active TSS	Stomach Smooth Muscle	stomach
26	chr3:24534200-24535000	Flanking Active TSS	HepG2	liver
27	chr3:24534200-24537000	Active TSS	Liver	Liver
28	chr3:24534400-24535000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr3:24534400-24535200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr3:24534400-24535400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr3:24534400-24537000	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr3:24534400-24538200	Active TSS	Aorta	Aorta
33	chr3:24534600-24535000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr3:24534600-24535200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr3:24534600-24535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:24534600-24535200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:24534600-24535200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr3:24534600-24535200	Enhancers	Brain Substantia Nigra	brain
39	chr3:24534600-24535200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr3:24534600-24535200	Active TSS	Fetal Stomach	stomach
41	chr3:24534600-24535200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr3:24534600-24535400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:24534600-24535800	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr3:24534600-24537200	Active TSS	Psoas Muscle	Psoas
45	chr3:24534600-24537400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr3:24534600-24537600	Active TSS	Brain Anterior Caudate	brain
47	chr3:24534600-24537600	Active TSS	Brain Cingulate Gyrus	brain
48	chr3:24534800-24535000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr3:24534800-24535000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:24534800-24535000	Active TSS	Fetal Lung	lung

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