Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:124603169..124606438-chr8:124607098..124610050,3	MCF-7	breast:
2	chr8:124608092..124610186-chr8:124645249..124647691,2	MCF-7	breast:
3	chr8:124597117..124599176-chr8:124606571..124610166,3	MCF-7	breast:
4	chr8:124599268..124602405-chr8:124609262..124611573,3	MCF-7	breast:
5	chr8:124608823..124611776-chr8:124612994..124616282,3	MCF-7	breast:
6	chr8:124589966..124594613-chr8:124606326..124610133,5	MCF-7	breast:
7	chr8:124607569..124610027-chr8:124612022..124613929,3	MCF-7	breast:
8	chr8:124576290..124577996-chr8:124608283..124610311,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251840	Chromatin interaction

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10104547	0.82[EUR][1000 genomes]
rs10105316	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17253999	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385455	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2385456	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28445658	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28484830	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28490211	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613586	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28825116	0.88[ASN][1000 genomes]
rs35066700	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4391415	0.80[AMR][1000 genomes]
rs4871390	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871392	0.87[ASN][1000 genomes]
rs4871394	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62520905	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711208	0.94[ASN][1000 genomes]
rs72711214	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7814093	0.97[ASN][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	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
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124608000-124610400	Enhancers	Esophagus	oesophagus
2	chr8:124608600-124610200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:124608600-124610400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124608600-124610400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:124608600-124610400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:124608600-124610400	Enhancers	HMEC	breast
7	chr8:124608600-124610400	Enhancers	HSMMtube	muscle
8	chr8:124608800-124610200	Enhancers	Osteobl	bone
9	chr8:124609000-124610400	Enhancers	HSMM	muscle
10	chr8:124609200-124610200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:124609200-124610400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:124609200-124610400	Enhancers	Aorta	Aorta
13	chr8:124609200-124610400	Enhancers	Pancreas	Pancrea
14	chr8:124609200-124610400	Enhancers	Right Atrium	heart
15	chr8:124609200-124615000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:124609400-124610200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:124609600-124610200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:124609600-124610400	Enhancers	Rectal Smooth Muscle	rectum
19	chr8:124609800-124610000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:124609800-124610200	Enhancers	Colon Smooth Muscle	Colon
21	chr8:124609800-124620800	Weak transcription	Psoas Muscle	Psoas

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