Variant report

Variant	rs61411054
Chromosome Location	chr8:125937303-125937304
allele	C/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125566501..125569219-chr8:125936752..125938690,2	MCF-7	breast:
2	chr8:125763544..125764471-chr8:125936648..125937472,2	MCF-7	breast:
3	chr8:125826307..125827972-chr8:125936472..125938461,2	MCF-7	breast:
4	chr8:125935909..125938271-chr8:125963994..125966987,3	MCF-7	breast:
5	chr8:125604579..125606037-chr8:125936216..125937900,23	MCF-7	breast:
6	chr8:125927702..125929777-chr8:125936123..125937814,2	MCF-7	breast:
7	chr8:125900652..125901659-chr8:125936406..125937477,4	MCF-7	breast:
8	chr8:125867918..125869705-chr8:125935657..125937307,2	MCF-7	breast:
9	chr8:125610009..125610706-chr8:125936724..125937385,2	MCF-7	breast:
10	chr8:125864651..125867984-chr8:125934838..125937619,3	MCF-7	breast:
11	chr8:125549812..125552337-chr8:125936366..125938525,2	MCF-7	breast:
12	chr8:125568500..125569404-chr8:125936057..125937539,6	MCF-7	breast:
13	chr8:125568422..125569389-chr8:125936437..125937567,3	MCF-7	breast:
14	chr8:125604990..125605930-chr8:125936492..125937604,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10956223	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956224	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11776042	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11781649	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11781785	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11781812	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782252	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782787	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782922	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782982	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11785339	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12542299	0.85[ASN][1000 genomes]
rs1427083	0.85[ASN][1000 genomes]
rs1427088	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1427090	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16900093	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17395997	0.99[ASN][1000 genomes]
rs2052781	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052782	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052783	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052784	0.85[ASN][1000 genomes]
rs2052785	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2052786	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4409411	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4567058	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58514883	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125934400-125937600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:125935200-125937400	Enhancers	HMEC	breast
3	chr8:125935200-125937400	Enhancers	NHEK	skin
4	chr8:125935400-125937400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:125935400-125937400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:125935400-125937600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:125936400-125937400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125936400-125937400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:125936400-125937600	Enhancers	Fetal Heart	heart
10	chr8:125936400-125937800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:125936600-125937400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:125936600-125937400	Enhancers	HepG2	liver
13	chr8:125936600-125941200	Weak transcription	K562	blood
14	chr8:125936800-125937400	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:125936800-125937400	Enhancers	Brain Anterior Caudate	brain
16	chr8:125936800-125937400	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:125936800-125937400	Enhancers	Brain Germinal Matrix	brain
18	chr8:125936800-125937400	Enhancers	Brain Hippocampus Middle	brain
19	chr8:125936800-125937400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:125936800-125937400	Enhancers	Brain Substantia Nigra	brain
21	chr8:125936800-125937400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:125936800-125937400	Enhancers	Fetal Kidney	kidney
23	chr8:125936800-125937400	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:125936800-125937600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:125936800-125937600	Enhancers	Liver	Liver
26	chr8:125936800-125937600	Enhancers	Fetal Lung	lung
27	chr8:125936800-125937600	Enhancers	Right Atrium	heart
28	chr8:125937000-125937400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:125937000-125937400	Enhancers	Brain Angular Gyrus	brain
30	chr8:125937000-125937400	Enhancers	Placenta	Placenta
31	chr8:125937000-125937600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr8:125937000-125938400	Enhancers	Left Ventricle	heart
33	chr8:125937200-125937400	Enhancers	Esophagus	oesophagus
34	chr8:125937200-125938200	Enhancers	Lung	lung

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