Variant report

Variant	rs28484830
Chromosome Location	chr8:124603838-124603839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124596927..124598832-chr8:124603529..124605286,2	MCF-7	breast:
2	chr8:124603169..124606438-chr8:124607098..124610050,3	MCF-7	breast:
3	chr8:124499424..124501897-chr8:124602066..124604421,2	MCF-7	breast:
4	chr8:124597730..124602025-chr8:124602614..124604798,3	K562	blood:

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10105316	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17253999	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385455	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385456	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28445658	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28490211	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613586	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28825116	0.83[ASN][1000 genomes]
rs35066700	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871390	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871392	0.89[ASN][1000 genomes]
rs4871394	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55987314	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62520905	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72711208	0.90[ASN][1000 genomes]
rs72711214	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814093	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124599200-124604400	Weak transcription	HSMMtube	muscle
2	chr8:124599400-124604400	Weak transcription	HSMM	muscle
3	chr8:124599400-124604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124599400-124604800	Enhancers	Stomach Smooth Muscle	stomach
5	chr8:124599400-124605000	Enhancers	Colon Smooth Muscle	Colon
6	chr8:124599600-124606200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:124600400-124604400	Weak transcription	Psoas Muscle	Psoas
8	chr8:124600400-124604600	Weak transcription	Adipose Nuclei	Adipose
9	chr8:124601200-124605000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:124601400-124605400	Enhancers	NHDF-Ad	bronchial
11	chr8:124601400-124607200	Enhancers	Osteobl	bone
12	chr8:124601800-124604600	Weak transcription	Pancreas	Pancrea
13	chr8:124602000-124604200	Enhancers	Rectal Smooth Muscle	rectum
14	chr8:124602000-124604400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:124602000-124605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:124602400-124604000	Weak transcription	HMEC	breast
17	chr8:124602400-124604200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:124602400-124604400	Weak transcription	Left Ventricle	heart
19	chr8:124602400-124605400	Weak transcription	Right Ventricle	heart
20	chr8:124602400-124609000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:124602800-124604600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:124603200-124604800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:124603400-124604800	Enhancers	Aorta	Aorta
24	chr8:124603400-124604800	Enhancers	Fetal Lung	lung
25	chr8:124603400-124605200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:124603400-124605600	Enhancers	NHLF	lung
27	chr8:124603600-124604000	Weak transcription	Right Atrium	heart
28	chr8:124603800-124604000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:124603800-124604200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:124603800-124604200	Weak transcription	K562	blood
31	chr8:124603800-124604800	Enhancers	Ovary	ovary

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