Variant report

Variant	rs7827065
Chromosome Location	chr8:39914621-39914622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1383604	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1481051	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1481058	0.94[EUR][1000 genomes]
rs1481059	0.94[EUR][1000 genomes]
rs1481065	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1481066	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1600691	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1842538	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1904909	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127883	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2170306	0.88[AMR][1000 genomes]
rs2929091	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2929094	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2929097	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2929100	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2955862	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2955923	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955928	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2955930	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981133	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981135	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981137	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981139	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981140	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2981191	0.95[EUR][1000 genomes]
rs2981192	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2981194	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2981195	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7814008	0.84[ASN][1000 genomes]
rs7824665	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7829590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39907600-39919000	Enhancers	HepG2	liver
2	chr8:39912800-39917200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:39912800-39917400	Weak transcription	NHLF	lung
4	chr8:39912800-39917600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:39912800-39919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:39913000-39916400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:39913000-39916400	Weak transcription	Esophagus	oesophagus
8	chr8:39913000-39917000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
10	chr8:39913200-39916400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:39913200-39916400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:39913200-39916400	Weak transcription	Lung	lung
13	chr8:39913200-39916800	Weak transcription	Fetal Lung	lung
14	chr8:39913400-39916400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:39913400-39917600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:39913400-39919400	Weak transcription	Aorta	Aorta
17	chr8:39913600-39916400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:39913600-39916400	Weak transcription	Colonic Mucosa	Colon
19	chr8:39913600-39916400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:39913600-39916400	Weak transcription	Small Intestine	intestine
21	chr8:39913800-39915200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:39913800-39916400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:39914000-39915600	Weak transcription	Hela-S3	cervix
24	chr8:39914000-39916400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:39914000-39916800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:39914000-39917400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:39914200-39915200	Weak transcription	Stomach Mucosa	stomach
28	chr8:39914200-39915600	Weak transcription	Fetal Kidney	kidney
29	chr8:39914200-39916200	Weak transcription	A549	lung
30	chr8:39914200-39916400	Weak transcription	Brain Angular Gyrus	brain
31	chr8:39914200-39916400	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:39914200-39916400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:39914200-39916400	Weak transcription	Brain Substantia Nigra	brain
34	chr8:39914200-39916600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:39914200-39916600	Weak transcription	Fetal Intestine Large	intestine
36	chr8:39914200-39916800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:39914200-39918600	Weak transcription	Liver	Liver
38	chr8:39914600-39915000	Enhancers	Pancreas	Pancrea

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