Variant report

Variant	rs13270667
Chromosome Location	chr8:54436293-54436294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1H-1	chr8:54435889-54436491	XLOC_007085

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10504154	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958371	0.89[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958372	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776806	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11778924	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541575	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279206	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13280807	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833232	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13270667	RP11-1081M5.2	cis	Artery Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54433400-54436400	Flanking Active TSS	Osteobl	bone
2	chr8:54433400-54437000	Active TSS	Right Ventricle	heart
3	chr8:54433400-54437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:54433600-54437000	Active TSS	Aorta	Aorta
5	chr8:54433800-54436600	Active TSS	Fetal Thymus	thymus
6	chr8:54433800-54437200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:54433800-54437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr8:54434000-54437000	Active TSS	Ovary	ovary
9	chr8:54434200-54437000	Flanking Active TSS	HMEC	breast
10	chr8:54434200-54437600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr8:54434400-54436800	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:54434400-54436800	Active TSS	Right Atrium	heart
13	chr8:54434400-54437400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:54434600-54436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:54434600-54436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:54434600-54436600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:54434600-54437000	Active TSS	NHLF	lung
18	chr8:54434600-54437400	Active TSS	Brain Hippocampus Middle	brain
19	chr8:54434800-54436400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:54434800-54436400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:54434800-54436400	Flanking Active TSS	HSMMtube	muscle
22	chr8:54434800-54437000	Active TSS	Brain Anterior Caudate	brain
23	chr8:54434800-54437000	Active TSS	Colonic Mucosa	Colon
24	chr8:54435000-54437400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:54435200-54436400	Flanking Active TSS	Fetal Heart	heart
26	chr8:54435200-54436400	Flanking Active TSS	Fetal Lung	lung
27	chr8:54435200-54436400	Flanking Active TSS	Fetal Stomach	stomach
28	chr8:54435200-54436600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:54435400-54436400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:54435600-54436400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:54435600-54436400	Weak transcription	Brain Germinal Matrix	brain
32	chr8:54435600-54436400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr8:54435600-54436600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:54435600-54437000	Weak transcription	Gastric	stomach
35	chr8:54435800-54436400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:54435800-54436400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:54435800-54436400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:54435800-54436800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:54435800-54437000	Active TSS	Brain Cingulate Gyrus	brain
40	chr8:54435800-54437000	Active TSS	Brain Substantia Nigra	brain
41	chr8:54435800-54437000	Enhancers	Fetal Kidney	kidney
42	chr8:54435800-54437200	Flanking Active TSS	NH-A	brain
43	chr8:54436000-54436400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:54436000-54436400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:54436000-54436400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:54436000-54436400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:54436000-54436400	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr8:54436000-54436400	Flanking Active TSS	Fetal Brain Male	brain
49	chr8:54436000-54436400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr8:54436000-54436400	Flanking Active TSS	Left Ventricle	heart

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