Variant report

Variant	rs62518260
Chromosome Location	chr8:107869925-107869926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs62515056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62515057	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62515166	1.00[AMR][1000 genomes]
rs62515168	1.00[AMR][1000 genomes]
rs62515170	1.00[AMR][1000 genomes]
rs62518276	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62518277	0.94[ASN][1000 genomes]
rs62518279	1.00[AMR][1000 genomes]
rs62518280	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62518289	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62518293	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62518296	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62518329	1.00[AMR][1000 genomes]
rs62518333	1.00[AMR][1000 genomes]
rs6651200	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003717	1.00[EUR][1000 genomes]
rs7009286	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv465756	chr8:107838892-107872577	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv611847	chr8:107838892-107872577	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv465757	chr8:107846295-107893477	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv611848	chr8:107846295-107893477	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107868400-107871200	Enhancers	NHLF	lung
2	chr8:107868600-107870200	Enhancers	HSMM	muscle
3	chr8:107868600-107870600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:107868800-107870200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:107869000-107870200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:107869000-107871400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:107869400-107870000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:107869400-107870400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:107869400-107870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:107869400-107870800	Enhancers	NHEK	skin
11	chr8:107869400-107871400	Enhancers	HMEC	breast
12	chr8:107869600-107870000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:107869600-107870000	Flanking Active TSS	HSMMtube	muscle
14	chr8:107869600-107870600	Enhancers	Aorta	Aorta
15	chr8:107869600-107870800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:107869600-107870800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:107869600-107870800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:107869600-107870800	Enhancers	Fetal Muscle Leg	muscle
19	chr8:107869800-107870000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:107869800-107870000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:107869800-107870000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:107869800-107870000	Flanking Active TSS	NHDF-Ad	bronchial
23	chr8:107869800-107870200	Enhancers	Fetal Kidney	kidney
24	chr8:107869800-107870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:107869800-107870400	Enhancers	Adipose Nuclei	Adipose
26	chr8:107869800-107870600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:107869800-107870600	Enhancers	Colon Smooth Muscle	Colon
28	chr8:107869800-107870600	Flanking Active TSS	NH-A	brain
29	chr8:107869800-107870600	Flanking Active TSS	Osteobl	bone
30	chr8:107869800-107870800	Enhancers	Placenta	Placenta
31	chr8:107869800-107870800	Enhancers	GM12878-XiMat	blood
32	chr8:107869800-107871200	Flanking Active TSS	A549	lung

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