Variant report

Variant	rs6765048
Chromosome Location	chr3:24561894-24561895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24534533..24538643-chr3:24561395..24564731,10	MCF-7	breast:
2	chr3:24535191..24540424-chr3:24558354..24564929,10	K562	blood:
3	chr3:24561126..24562915-chr3:24623177..24625946,2	MCF-7	breast:
4	chr3:24532710..24534461-chr3:24559885..24562772,2	MCF-7	breast:
5	chr3:24535945..24538703-chr3:24560979..24563838,8	K562	blood:
6	chr3:24355347..24357297-chr3:24560639..24562872,2	MCF-7	breast:
7	chr3:24542887..24544808-chr3:24560931..24562501,2	K562	blood:
8	chr3:24534014..24541118-chr3:24556364..24565705,22	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272554	Chromatin interaction
ENSG00000151090	Chromatin interaction
ENSG00000228791	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17014772	1.00[EUR][1000 genomes]
rs1865711	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3749376	0.89[JPT][hapmap]
rs55929411	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56783261	0.81[ASN][1000 genomes]
rs57622980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58388581	0.81[ASN][1000 genomes]
rs58932894	0.81[ASN][1000 genomes]
rs61063562	0.81[ASN][1000 genomes]
rs61078516	1.00[EUR][1000 genomes]
rs6764938	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789815	1.00[JPT][hapmap]
rs73823340	0.81[ASN][1000 genomes]
rs73823348	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73823356	1.00[EUR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24560600-24562000	Enhancers	Aorta	Aorta
2	chr3:24560600-24562400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:24560600-24562400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:24560600-24562600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:24560600-24562600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr3:24560600-24562600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:24560600-24562600	Enhancers	Brain Germinal Matrix	brain
8	chr3:24560600-24562600	Enhancers	Fetal Intestine Small	intestine
9	chr3:24560600-24562600	Flanking Active TSS	HepG2	liver
10	chr3:24560800-24562200	Enhancers	Spleen	Spleen
11	chr3:24560800-24562800	Flanking Active TSS	K562	blood
12	chr3:24561000-24562000	Weak transcription	Lung	lung
13	chr3:24561000-24562800	Weak transcription	Left Ventricle	heart
14	chr3:24561200-24562000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:24561200-24562000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:24561200-24562400	Weak transcription	Brain Angular Gyrus	brain
17	chr3:24561200-24562400	Enhancers	Brain Anterior Caudate	brain
18	chr3:24561200-24562400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:24561200-24562400	Enhancers	Brain Substantia Nigra	brain
20	chr3:24561200-24562400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:24561200-24562600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr3:24561200-24562600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr3:24561200-24562600	Weak transcription	Psoas Muscle	Psoas
24	chr3:24561400-24562400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr3:24561400-24562400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:24561400-24562400	Weak transcription	Liver	Liver
27	chr3:24561400-24562600	Enhancers	Placenta	Placenta
28	chr3:24561400-24562600	Weak transcription	NHDF-Ad	bronchial
29	chr3:24561400-24562800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:24561600-24562200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr3:24561600-24562600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:24561600-24562600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr3:24561600-24562600	Weak transcription	Right Atrium	heart
34	chr3:24561800-24562000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr3:24561800-24562200	Bivalent Enhancer	Brain Hippocampus Middle	brain

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