Variant report

Variant	rs12681718
Chromosome Location	chr8:125879736-125879737
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125794468..125796266-chr8:125877977..125879830,2	MCF-7	breast:
2	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
3	chr8:125739588..125741798-chr8:125878766..125880835,2	MCF-7	breast:
4	chr8:125879365..125882872-chr8:125883741..125886693,4	MCF-7	breast:
5	chr8:125878699..125880326-chr8:125918486..125921255,2	MCF-7	breast:
6	chr8:125738820..125741858-chr8:125878076..125881062,3	MCF-7	breast:
7	chr8:125874768..125876836-chr8:125878794..125880786,2	MCF-7	breast:
8	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:
9	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10956221	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11987831	0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13252227	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4870929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs4870930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs4871557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs4871559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4871561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4871566	0.81[CHB][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470291	0.91[ASN][1000 genomes]
rs6470293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.91[ASN][1000 genomes]
rs6470295	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470299	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6470301	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6470304	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6470310	0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470312	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470315	0.82[CHB][hapmap];0.94[AMR][1000 genomes]
rs6470316	0.82[CHB][hapmap];0.90[AMR][1000 genomes]
rs6470317	0.81[CHB][hapmap];0.88[AMR][1000 genomes]
rs6470318	0.84[AMR][1000 genomes]
rs6470325	0.85[AMR][1000 genomes]
rs6990879	0.95[YRI][hapmap]
rs7011950	0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7016723	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7387254	0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7388465	0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7459652	0.91[ASN][1000 genomes]
rs7461228	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7463183	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7463584	0.82[AMR][1000 genomes]
rs7463657	0.91[ASN][1000 genomes]
rs7464187	0.95[YRI][hapmap]
rs7464601	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7464910	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7819873	0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7820706	0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7820918	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7821070	0.83[AMR][1000 genomes]
rs7834577	0.88[AMR][1000 genomes]
rs7845589	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9987227	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
2	chr8:125873800-125880200	Weak transcription	Left Ventricle	heart
3	chr8:125874400-125884800	Weak transcription	Right Atrium	heart
4	chr8:125877000-125879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:125877000-125879800	Enhancers	NHDF-Ad	bronchial
6	chr8:125878000-125879800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125878000-125879800	Enhancers	HMEC	breast
8	chr8:125878000-125879800	Enhancers	NHEK	skin
9	chr8:125878000-125880000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:125878000-125880600	Enhancers	NHLF	lung
11	chr8:125878000-125881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:125878000-125881000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr8:125878200-125879800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:125878200-125879800	Enhancers	K562	blood
15	chr8:125878200-125880400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:125878200-125880800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:125878200-125880800	Enhancers	HUVEC	blood vessel
18	chr8:125878400-125879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:125878400-125880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:125878800-125880600	Enhancers	Placenta	Placenta
21	chr8:125879000-125879800	Enhancers	Fetal Heart	heart
22	chr8:125879400-125879800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:125879400-125880400	Weak transcription	Psoas Muscle	Psoas
24	chr8:125879400-125881800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:125879400-125884600	Weak transcription	HSMMtube	muscle
26	chr8:125879600-125879800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:125879600-125884400	Weak transcription	HSMM	muscle
28	chr8:125879600-125884400	Weak transcription	Osteobl	bone
29	chr8:125879600-125884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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