Variant report

Variant	rs10095702
Chromosome Location	chr8:54436111-54436112
allele	C/T
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: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10958370	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10958371	0.89[CEU][hapmap]
rs1477956	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477957	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361507	0.92[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1904072	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6473839	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473840	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473842	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004273	0.89[ASN][1000 genomes]
rs7812717	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829521	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10095702	RP11-1081M5.1	cis	Artery Tibial	GTEx
rs10095702	RP11-1081M5.1	cis	Artery Aorta	GTEx
rs10095702	RP11-1081M5.2	cis	Artery Tibial	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
2	chr8:54427800-54436200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:54433400-54436400	Flanking Active TSS	Osteobl	bone
4	chr8:54433400-54437000	Active TSS	Right Ventricle	heart
5	chr8:54433400-54437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:54433600-54437000	Active TSS	Aorta	Aorta
7	chr8:54433800-54436200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54433800-54436600	Active TSS	Fetal Thymus	thymus
9	chr8:54433800-54437200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:54433800-54437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr8:54434000-54437000	Active TSS	Ovary	ovary
12	chr8:54434200-54437000	Flanking Active TSS	HMEC	breast
13	chr8:54434200-54437600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:54434400-54436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:54434400-54436200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:54434400-54436200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:54434400-54436800	Active TSS	Rectal Smooth Muscle	rectum
18	chr8:54434400-54436800	Active TSS	Right Atrium	heart
19	chr8:54434400-54437400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:54434600-54436400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:54434600-54436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:54434600-54436600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:54434600-54437000	Active TSS	NHLF	lung
24	chr8:54434600-54437400	Active TSS	Brain Hippocampus Middle	brain
25	chr8:54434800-54436200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:54434800-54436400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:54434800-54436400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:54434800-54436400	Flanking Active TSS	HSMMtube	muscle
29	chr8:54434800-54437000	Active TSS	Brain Anterior Caudate	brain
30	chr8:54434800-54437000	Active TSS	Colonic Mucosa	Colon
31	chr8:54435000-54437400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:54435200-54436400	Flanking Active TSS	Fetal Heart	heart
33	chr8:54435200-54436400	Flanking Active TSS	Fetal Lung	lung
34	chr8:54435200-54436400	Flanking Active TSS	Fetal Stomach	stomach
35	chr8:54435200-54436600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:54435400-54436200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:54435400-54436200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:54435400-54436200	Enhancers	Psoas Muscle	Psoas
39	chr8:54435400-54436400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:54435600-54436200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:54435600-54436200	Enhancers	Stomach Mucosa	stomach
42	chr8:54435600-54436400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:54435600-54436400	Weak transcription	Brain Germinal Matrix	brain
44	chr8:54435600-54436400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr8:54435600-54436600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:54435600-54437000	Weak transcription	Gastric	stomach
47	chr8:54435800-54436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:54435800-54436200	Enhancers	Lung	lung
49	chr8:54435800-54436200	Flanking Active TSS	HSMM	muscle
50	chr8:54435800-54436200	Enhancers	HUVEC	blood vessel

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