Variant report

Variant	rs73823341
Chromosome Location	chr3:24534422-24534423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:24534103-24534456	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24532710..24534461-chr3:24559885..24562772,2	MCF-7	breast:
2	chr3:24313227..24314767-chr3:24532940..24535103,2	MCF-7	breast:
3	chr3:24516329..24518836-chr3:24531927..24534617,2	MCF-7	breast:
4	chr3:23958569..23960911-chr3:24534140..24537048,3	MCF-7	breast:
5	chr3:24534014..24541118-chr3:24556364..24565705,22	MCF-7	breast:
6	chr3:24506686..24508341-chr3:24532233..24535009,2	K562	blood:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55661339	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55936680	1.00[AMR][1000 genomes]
rs56035340	1.00[AMR][1000 genomes]
rs61078139	1.00[AMR][1000 genomes]
rs73823333	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823346	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823350	1.00[AMR][1000 genomes]
rs73823353	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823354	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823355	0.84[AFR][1000 genomes];1.00[AMR][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:52 , 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	chr3:24530400-24534600	Enhancers	Adipose Nuclei	Adipose
5	chr3:24530800-24534800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:24532000-24534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:24532200-24534600	Enhancers	K562	blood
8	chr3:24532200-24535000	Weak transcription	Hela-S3	cervix
9	chr3:24532200-24535200	Weak transcription	Right Atrium	heart
10	chr3:24532200-24535400	Weak transcription	Pancreas	Pancrea
11	chr3:24533000-24534600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr3:24533200-24534600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:24533200-24534800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr3:24533400-24534600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr3:24533400-24535000	Weak transcription	Right Ventricle	heart
16	chr3:24533400-24535200	Weak transcription	Left Ventricle	heart
17	chr3:24533600-24534800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr3:24533600-24535400	Active TSS	Fetal Intestine Large	intestine
19	chr3:24533600-24535600	Active TSS	Fetal Intestine Small	intestine
20	chr3:24533600-24537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:24533600-24537800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr3:24533800-24534600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr3:24533800-24534800	Weak transcription	Stomach Mucosa	stomach
24	chr3:24533800-24535000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:24533800-24535200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:24533800-24535200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:24533800-24535400	Weak transcription	Esophagus	oesophagus
28	chr3:24533800-24535400	Bivalent/Poised TSS	Fetal Brain Male	brain
29	chr3:24533800-24535400	Bivalent/Poised TSS	Fetal Brain Female	brain
30	chr3:24533800-24535400	Weak transcription	Gastric	stomach
31	chr3:24533800-24537000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr3:24533800-24537400	Active TSS	Brain Angular Gyrus	brain
33	chr3:24534000-24534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:24534000-24534600	Weak transcription	Psoas Muscle	Psoas
35	chr3:24534000-24535200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:24534000-24535200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:24534000-24537000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr3:24534000-24537000	Active TSS	Stomach Smooth Muscle	stomach
39	chr3:24534200-24534600	Enhancers	Fetal Lung	lung
40	chr3:24534200-24534800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr3:24534200-24535000	Flanking Active TSS	HepG2	liver
42	chr3:24534200-24537000	Active TSS	Liver	Liver
43	chr3:24534400-24534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:24534400-24534600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr3:24534400-24534600	Active TSS	NHDF-Ad	bronchial
46	chr3:24534400-24534800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr3:24534400-24534800	Active TSS	HMEC	breast
48	chr3:24534400-24535000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr3:24534400-24535200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr3:24534400-24535400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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