Variant report

Variant	rs56984248
Chromosome Location	chr8:62427684-62427685
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10097248	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11997276	1.00[EUR][1000 genomes]
rs12115001	1.00[EUR][1000 genomes]
rs16918879	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16927427	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16927431	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16927456	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28415536	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61052776	0.80[AMR][1000 genomes]
rs6992793	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009106	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7816683	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9693981	1.00[EUR][1000 genomes];0.88[ASN][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62408600-62427800	Weak transcription	Fetal Intestine Large	intestine
2	chr8:62408600-62430800	Weak transcription	Fetal Brain Male	brain
3	chr8:62408800-62432000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:62409000-62427800	Weak transcription	HMEC	breast
5	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:62411200-62493800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:62411600-62429800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:62412000-62455600	Strong transcription	A549	lung
9	chr8:62412400-62428000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:62412600-62428200	Weak transcription	HepG2	liver
11	chr8:62412800-62438800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:62413400-62428200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:62413400-62436000	Weak transcription	Small Intestine	intestine
14	chr8:62413800-62429600	Weak transcription	HSMMtube	muscle
15	chr8:62414200-62428000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:62414200-62428200	Weak transcription	Brain Substantia Nigra	brain
17	chr8:62414200-62455400	Weak transcription	Fetal Lung	lung
18	chr8:62414400-62429800	Weak transcription	Colonic Mucosa	Colon
19	chr8:62414600-62448800	Weak transcription	HUVEC	blood vessel
20	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
21	chr8:62415000-62430400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:62415600-62430800	Strong transcription	Liver	Liver
23	chr8:62415600-62437200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:62416000-62441400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:62416200-62428400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:62416200-62429600	Weak transcription	Esophagus	oesophagus
27	chr8:62416200-62429600	Weak transcription	Fetal Brain Female	brain
28	chr8:62416400-62429000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:62417000-62454000	Weak transcription	NHEK	skin
30	chr8:62419400-62427800	Weak transcription	HSMM	muscle
31	chr8:62420200-62438600	Strong transcription	NHDF-Ad	bronchial
32	chr8:62420400-62430800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:62420400-62436600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:62420800-62427800	Weak transcription	Right Ventricle	heart
35	chr8:62420800-62431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:62420800-62439200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:62421000-62431000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:62421200-62431000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:62421200-62431600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:62421200-62456400	Weak transcription	Psoas Muscle	Psoas
41	chr8:62421400-62429400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:62421400-62452600	Weak transcription	Brain Germinal Matrix	brain
43	chr8:62421600-62429600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:62421800-62428200	Weak transcription	Placenta	Placenta
45	chr8:62421800-62431600	Strong transcription	NHLF	lung
46	chr8:62422200-62431800	Strong transcription	NH-A	brain
47	chr8:62422600-62427800	Weak transcription	Aorta	Aorta
48	chr8:62422600-62427800	Weak transcription	Spleen	Spleen
49	chr8:62422600-62428200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:62422600-62440200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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