Variant report

Variant	rs73259402
Chromosome Location	chr8:62429468-62429469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11539105	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11987270	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11987285	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11993631	0.86[AFR][1000 genomes]
rs56947738	1.00[AMR][1000 genomes]
rs57787482	1.00[AFR][1000 genomes];1.00[AMR][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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59038492	1.00[EUR][1000 genomes]
rs59721840	1.00[EUR][1000 genomes]
rs59924634	1.00[EUR][1000 genomes]
rs60140341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60272015	1.00[EUR][1000 genomes]
rs61565764	1.00[EUR][1000 genomes]
rs61704340	1.00[EUR][1000 genomes]
rs6987677	1.00[EUR][1000 genomes]
rs6993580	1.00[EUR][1000 genomes]
rs7016371	1.00[EUR][1000 genomes]
rs73259354	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259357	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259365	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259370	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259374	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259381	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259382	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263152	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263168	1.00[EUR][1000 genomes]
rs73263187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73263194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265199	1.00[AMR][1000 genomes];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:8 , 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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
2	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:62412000-62455600	Strong transcription	A549	lung
7	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
9	chr8:62413800-62429600	Weak transcription	HSMMtube	muscle
10	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
11	chr8:62414400-62429800	Weak transcription	Colonic Mucosa	Colon
12	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
13	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
14	chr8:62415000-62430400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:62415600-62430800	Strong transcription	Liver	Liver
16	chr8:62415600-62437200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:62416000-62441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:62416200-62429600	Weak transcription	Esophagus	oesophagus
19	chr8:62416200-62429600	Weak transcription	Fetal Brain Female	brain
20	chr8:62417000-62454000	Weak transcription	NHEK	skin
21	chr8:62420200-62438600	Strong transcription	NHDF-Ad	bronchial
22	chr8:62420400-62430800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:62420400-62436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:62420800-62431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:62420800-62439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:62421000-62431000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:62421200-62431000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:62421200-62431600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
30	chr8:62421400-62452600	Weak transcription	Brain Germinal Matrix	brain
31	chr8:62421600-62429600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:62421800-62431600	Strong transcription	NHLF	lung
33	chr8:62422200-62431800	Strong transcription	NH-A	brain
34	chr8:62422600-62440200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:62422600-62455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:62423200-62456200	Weak transcription	Stomach Mucosa	stomach
37	chr8:62424200-62430400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:62424200-62430400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:62424600-62431400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:62424600-62431600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:62424800-62430400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:62425000-62437200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr8:62425400-62431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:62425800-62432000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr8:62425800-62452600	Weak transcription	Primary T cells from cord blood	blood
46	chr8:62426000-62430200	Strong transcription	Gastric	stomach
47	chr8:62426000-62430200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:62426400-62430400	Strong transcription	Fetal Stomach	stomach
49	chr8:62426400-62431600	Strong transcription	Left Ventricle	heart
50	chr8:62426600-62430400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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