Variant report

Variant	rs16875189
Chromosome Location	chr8:107869710-107869711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1001989	0.84[ASN][1000 genomes]
rs10504087	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875192	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875222	0.86[ASN][1000 genomes]
rs16875247	0.83[ASN][1000 genomes]
rs16875259	0.83[ASN][1000 genomes]
rs2981244	0.87[ASN][1000 genomes]
rs2981246	0.87[ASN][1000 genomes]
rs2981258	0.89[ASN][1000 genomes]
rs3018937	0.87[ASN][1000 genomes]
rs3018938	0.85[ASN][1000 genomes]
rs55706247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126658	0.94[EUR][1000 genomes]
rs56138911	0.89[ASN][1000 genomes]
rs57226265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61124768	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72510103	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs730478	0.96[ASN][1000 genomes]
rs768691	0.87[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107868200-107869800	Enhancers	NHDF-Ad	bronchial
2	chr8:107868400-107869800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:107868400-107871200	Enhancers	NHLF	lung
4	chr8:107868600-107869800	Enhancers	A549	lung
5	chr8:107868600-107869800	Enhancers	NH-A	brain
6	chr8:107868600-107870200	Enhancers	HSMM	muscle
7	chr8:107868600-107870600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:107868800-107869800	Enhancers	Osteobl	bone
9	chr8:107868800-107870200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:107869000-107870200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:107869000-107871400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:107869400-107869800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:107869400-107869800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:107869400-107870000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:107869400-107870400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:107869400-107870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:107869400-107870800	Enhancers	NHEK	skin
18	chr8:107869400-107871400	Enhancers	HMEC	breast
19	chr8:107869600-107870000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:107869600-107870000	Flanking Active TSS	HSMMtube	muscle
21	chr8:107869600-107870600	Enhancers	Aorta	Aorta
22	chr8:107869600-107870800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:107869600-107870800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:107869600-107870800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:107869600-107870800	Enhancers	Fetal Muscle Leg	muscle

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