Variant report

Variant	rs2981258
Chromosome Location	chr8:107870353-107870354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1001989	0.95[ASN][1000 genomes]
rs10504087	0.87[ASN][1000 genomes]
rs16875185	0.89[ASN][1000 genomes]
rs16875189	0.89[ASN][1000 genomes]
rs16875192	0.89[ASN][1000 genomes]
rs16875196	0.89[ASN][1000 genomes]
rs2981244	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2981246	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018932	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3018937	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018938	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55706247	0.89[ASN][1000 genomes]
rs56138911	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57226265	0.89[ASN][1000 genomes]
rs61124768	0.89[ASN][1000 genomes]
rs730478	0.85[ASN][1000 genomes]
rs768691	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2981258	ABRA	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107868400-107871200	Enhancers	NHLF	lung
2	chr8:107868600-107870600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:107869000-107871400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:107869400-107870400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:107869400-107870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:107869400-107870800	Enhancers	NHEK	skin
7	chr8:107869400-107871400	Enhancers	HMEC	breast
8	chr8:107869600-107870600	Enhancers	Aorta	Aorta
9	chr8:107869600-107870800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:107869600-107870800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:107869600-107870800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:107869600-107870800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:107869800-107870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:107869800-107870400	Enhancers	Adipose Nuclei	Adipose
15	chr8:107869800-107870600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:107869800-107870600	Enhancers	Colon Smooth Muscle	Colon
17	chr8:107869800-107870600	Flanking Active TSS	NH-A	brain
18	chr8:107869800-107870600	Flanking Active TSS	Osteobl	bone
19	chr8:107869800-107870800	Enhancers	Placenta	Placenta
20	chr8:107869800-107870800	Enhancers	GM12878-XiMat	blood
21	chr8:107869800-107871200	Flanking Active TSS	A549	lung
22	chr8:107870000-107870400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:107870000-107870400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:107870000-107870400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:107870000-107870400	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:107870000-107870600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:107870000-107870800	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:107870000-107870800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:107870200-107870600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:107870200-107870600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:107870200-107870600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:107870200-107870600	Active TSS	HSMM	muscle
33	chr8:107870200-107870600	Flanking Active TSS	NHDF-Ad	bronchial
34	chr8:107870200-107870800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:107870200-107870800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:107870200-107870800	Enhancers	Gastric	stomach
37	chr8:107870200-107870800	Flanking Active TSS	HSMMtube	muscle

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