Variant report

Variant	rs4566480
Chromosome Location	chr3:24491136-24491137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24481444..24484786-chr3:24488715..24492560,4	K562	blood:
2	chr3:24490789..24493603-chr3:24538186..24540704,2	K562	blood:
3	chr3:24489242..24492071-chr3:24535616..24538264,2	MCF-7	breast:
4	chr3:24490199..24493862-chr3:24535942..24541957,6	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10510544	0.86[JPT][hapmap]
rs11707001	1.00[CEU][hapmap]
rs11714673	0.87[JPT][hapmap]
rs2043581	0.86[JPT][hapmap]
rs3456	1.00[CEU][hapmap]
rs35317485	0.89[ASN][1000 genomes]
rs35947386	0.89[ASN][1000 genomes]
rs4241527	0.85[JPT][hapmap]
rs4563353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4858616	0.91[JPT][hapmap]
rs4858617	0.91[JPT][hapmap]
rs56101205	0.87[ASN][1000 genomes]
rs62228825	0.84[EUR][1000 genomes]
rs62228826	0.84[EUR][1000 genomes]
rs62228827	0.84[EUR][1000 genomes]
rs62255438	0.82[EUR][1000 genomes]
rs62255443	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73034471	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834640	chr3:24339779-24493605	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24477000-24493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:24477200-24493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:24478200-24491400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:24478400-24493400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:24482600-24493000	Weak transcription	Right Atrium	heart
6	chr3:24488600-24493000	Weak transcription	K562	blood
7	chr3:24488800-24492200	Enhancers	Stomach Mucosa	stomach
8	chr3:24488800-24497800	Enhancers	Fetal Intestine Small	intestine
9	chr3:24489200-24497400	Enhancers	Fetal Intestine Large	intestine
10	chr3:24489400-24491200	Enhancers	HepG2	liver
11	chr3:24490200-24491400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:24490200-24492400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:24490200-24492400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr3:24490200-24494000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:24490400-24492600	Enhancers	Fetal Lung	lung
16	chr3:24490400-24493000	Enhancers	Hela-S3	cervix
17	chr3:24490600-24491200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr3:24490600-24491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:24490600-24491800	Weak transcription	Small Intestine	intestine
20	chr3:24490800-24491800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:24491000-24491200	Active TSS	Liver	Liver
22	chr3:24491000-24491600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:24491000-24492200	Weak transcription	Gastric	stomach
24	chr3:24491000-24493000	Weak transcription	Left Ventricle	heart
25	chr3:24491000-24493000	Weak transcription	Pancreas	Pancrea
26	chr3:24491000-24493400	Weak transcription	Psoas Muscle	Psoas
27	chr3:24491000-24495200	Weak transcription	Right Ventricle	heart
28	chr3:24491000-24499400	Weak transcription	Aorta	Aorta

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