Variant report

Variant	rs73259381
Chromosome Location	chr8:62415278-62415279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11539105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987285	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993631	0.81[AFR][1000 genomes]
rs57787482	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57869223	1.00[EUR][1000 genomes]
rs58092797	1.00[EUR][1000 genomes]
rs58250124	1.00[EUR][1000 genomes]
rs58325626	1.00[EUR][1000 genomes]
rs59038492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59721840	1.00[EUR][1000 genomes]
rs59924634	1.00[EUR][1000 genomes]
rs60140341	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60272015	1.00[EUR][1000 genomes]
rs61217047	1.00[AMR][1000 genomes]
rs61565764	1.00[EUR][1000 genomes]
rs61704340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987677	1.00[EUR][1000 genomes]
rs6993580	1.00[EUR][1000 genomes]
rs7016371	1.00[EUR][1000 genomes]
rs73259354	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259357	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259370	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259398	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259402	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73261103	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73261115	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73263152	1.00[EUR][1000 genomes]
rs73263158	1.00[EUR][1000 genomes]
rs73263168	1.00[EUR][1000 genomes]
rs73263187	1.00[EUR][1000 genomes]
rs73263194	1.00[EUR][1000 genomes]
rs73265171	1.00[EUR][1000 genomes]
rs73265199	1.00[EUR][1000 genomes]
rs73682259	1.00[EUR][1000 genomes]
rs73682260	1.00[EUR][1000 genomes]
rs73682269	1.00[EUR][1000 genomes]
rs7830460	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv521898	chr8:62364663-62419120	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62406200-62415400	Weak transcription	Esophagus	oesophagus
2	chr8:62408600-62427800	Weak transcription	Fetal Intestine Large	intestine
3	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
4	chr8:62408800-62427600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:62409000-62415600	Weak transcription	Aorta	Aorta
7	chr8:62409000-62427800	Weak transcription	HMEC	breast
8	chr8:62409200-62415400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:62409200-62426000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:62409400-62421200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:62410400-62415600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:62410400-62417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:62410600-62420400	Weak transcription	Gastric	stomach
14	chr8:62410800-62415600	Weak transcription	Liver	Liver
15	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:62411200-62417600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:62411400-62415800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:62411400-62415800	Weak transcription	Hela-S3	cervix
20	chr8:62411400-62422200	Weak transcription	Spleen	Spleen
21	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:62412000-62418800	Strong transcription	NHDF-Ad	bronchial
23	chr8:62412000-62426000	Strong transcription	Adipose Nuclei	Adipose
24	chr8:62412000-62455600	Strong transcription	A549	lung
25	chr8:62412200-62415400	Weak transcription	Left Ventricle	heart
26	chr8:62412200-62420400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:62412200-62420400	Weak transcription	Lung	lung
28	chr8:62412400-62416400	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr8:62412400-62428000	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:62412600-62417000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:62412600-62418200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:62412600-62419200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:62412600-62425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:62412600-62428200	Weak transcription	HepG2	liver
35	chr8:62412800-62417800	Strong transcription	HSMM	muscle
36	chr8:62412800-62419600	Strong transcription	NH-A	brain
37	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:62413000-62415600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:62413000-62415600	Weak transcription	Fetal Brain Female	brain
40	chr8:62413200-62415400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:62413400-62415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:62413400-62415600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:62413400-62415800	Weak transcription	Pancreas	Pancrea
44	chr8:62413400-62415800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:62413400-62428200	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
47	chr8:62413600-62416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:62413800-62416200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:62413800-62417600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:62413800-62429600	Weak transcription	HSMMtube	muscle

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