Variant report

Variant	rs6991456
Chromosome Location	chr8:54428370-54428371
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	chr8:54427731-54429514	XLOC_007085
2	lnc-ATP6V1H-1	chr8:54426635-54429514	NONHSAT126594

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10095197	1.00[CEU][hapmap]
rs11785377	0.81[JPT][hapmap]
rs12549903	0.81[JPT][hapmap]
rs12549929	0.81[JPT][hapmap]
rs13271231	0.90[ASN][1000 genomes]
rs1477953	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs1477958	0.90[ASN][1000 genomes]
rs1531520	0.88[ASN][1000 genomes]
rs1551909	0.90[ASN][1000 genomes]
rs2086073	0.81[JPT][hapmap]
rs2086074	0.81[JPT][hapmap]
rs3891	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs3892	0.91[ASN][1000 genomes]
rs4873261	0.81[JPT][hapmap]
rs4873754	0.90[ASN][1000 genomes]
rs4873755	0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs4873756	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6983383	0.81[JPT][hapmap]
rs7013700	0.90[ASN][1000 genomes]
rs9643478	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9657156	0.90[ASN][1000 genomes]
rs9657157	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs978138	0.81[JPT][hapmap]
rs978139	0.81[JPT][hapmap]

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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
3	chr8:54421800-54434800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54422800-54434800	Weak transcription	Esophagus	oesophagus
5	chr8:54424000-54428400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54426400-54433000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:54426400-54434600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:54426600-54429000	Enhancers	HSMMtube	muscle
9	chr8:54426600-54429200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:54426600-54430000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr8:54426800-54428800	Genic enhancers	Left Ventricle	heart
12	chr8:54426800-54429400	Strong transcription	Aorta	Aorta
13	chr8:54427000-54429600	Strong transcription	Ovary	ovary
14	chr8:54427200-54433200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:54427200-54433400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:54427400-54428600	Weak transcription	Fetal Heart	heart
17	chr8:54427400-54428800	Enhancers	NH-A	brain
18	chr8:54427400-54433000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:54427400-54434600	Weak transcription	NHLF	lung
20	chr8:54427600-54428400	Enhancers	HSMM	muscle
21	chr8:54427600-54429800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:54427600-54433200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:54427600-54433400	Weak transcription	HMEC	breast
24	chr8:54427800-54429200	Genic enhancers	Osteobl	bone
25	chr8:54427800-54436200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:54428000-54434400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:54428200-54428400	Strong transcription	Right Ventricle	heart
28	chr8:54428200-54428800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:54428200-54429000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:54428200-54429400	Weak transcription	Spleen	Spleen
31	chr8:54428200-54435000	Weak transcription	Fetal Stomach	stomach

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