Variant report

Variant	rs28393075
Chromosome Location	chr8:120931151-120931152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10086597	1.00[ASN][1000 genomes]
rs10088028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089416	1.00[ASN][1000 genomes]
rs10090726	1.00[ASN][1000 genomes]
rs10093746	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095185	1.00[ASN][1000 genomes]
rs10095406	1.00[ASN][1000 genomes]
rs10095508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097203	1.00[ASN][1000 genomes]
rs10097757	1.00[ASN][1000 genomes]
rs10098362	1.00[ASN][1000 genomes]
rs10098796	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10099163	1.00[ASN][1000 genomes]
rs10101222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101391	1.00[ASN][1000 genomes]
rs10101983	1.00[ASN][1000 genomes]
rs10102102	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102508	1.00[ASN][1000 genomes]
rs10104449	1.00[ASN][1000 genomes]
rs10105858	1.00[ASN][1000 genomes]
rs10106425	1.00[ASN][1000 genomes]
rs10109920	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109941	1.00[ASN][1000 genomes]
rs10110853	1.00[ASN][1000 genomes]
rs10113019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10505373	1.00[ASN][1000 genomes]
rs12334414	1.00[ASN][1000 genomes]
rs12334539	1.00[ASN][1000 genomes]
rs12334592	1.00[ASN][1000 genomes]
rs12386813	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13439791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433949	1.00[ASN][1000 genomes]
rs16892875	1.00[ASN][1000 genomes]
rs2139432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164021	1.00[ASN][1000 genomes]
rs28436011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447970	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502370	1.00[ASN][1000 genomes]
rs28517862	1.00[ASN][1000 genomes]
rs28529634	1.00[ASN][1000 genomes]
rs28570063	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28575743	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28579855	1.00[ASN][1000 genomes]
rs28589493	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28636993	1.00[ASN][1000 genomes]
rs28637899	1.00[ASN][1000 genomes]
rs28673002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673290	1.00[ASN][1000 genomes]
rs28678910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28684724	1.00[ASN][1000 genomes]
rs28701610	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28723382	1.00[ASN][1000 genomes]
rs28735236	1.00[ASN][1000 genomes]
rs28852781	1.00[ASN][1000 genomes]
rs4871029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871774	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871818	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55834530	1.00[ASN][1000 genomes]
rs6469842	1.00[ASN][1000 genomes]
rs6469843	1.00[ASN][1000 genomes]
rs6980897	1.00[ASN][1000 genomes]
rs6981151	1.00[ASN][1000 genomes]
rs6984913	1.00[ASN][1000 genomes]
rs6986364	1.00[ASN][1000 genomes]
rs6989284	1.00[ASN][1000 genomes]
rs6989323	1.00[ASN][1000 genomes]
rs6990166	1.00[ASN][1000 genomes]
rs6998771	1.00[ASN][1000 genomes]
rs7006490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009770	1.00[ASN][1000 genomes]
rs7010474	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7010646	1.00[ASN][1000 genomes]
rs7010729	1.00[ASN][1000 genomes]
rs7010887	1.00[ASN][1000 genomes]
rs7012755	0.91[AFR][1000 genomes]
rs72673603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673616	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673639	1.00[ASN][1000 genomes]
rs72673643	1.00[ASN][1000 genomes]
rs72690149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73702610	1.00[ASN][1000 genomes]
rs7831321	1.00[ASN][1000 genomes]
rs7833422	1.00[ASN][1000 genomes]
rs7843034	1.00[ASN][1000 genomes]
rs7843631	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs956748	1.00[ASN][1000 genomes]
rs9656932	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9693192	1.00[ASN][1000 genomes]
rs9987078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987272	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120920800-120932800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:120921800-120931800	Weak transcription	HSMMtube	muscle
3	chr8:120922000-120931200	Enhancers	Psoas Muscle	Psoas
4	chr8:120923000-120935400	Enhancers	Stomach Mucosa	stomach
5	chr8:120923600-120932800	Weak transcription	Lung	lung
6	chr8:120924000-120931800	Weak transcription	Right Atrium	heart
7	chr8:120925000-120931800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:120925000-120932400	Weak transcription	Right Ventricle	heart
9	chr8:120925000-120932600	Weak transcription	Esophagus	oesophagus
10	chr8:120925200-120931800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:120925200-120932600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:120925800-120931200	Weak transcription	Brain Anterior Caudate	brain
13	chr8:120926000-120931200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:120926200-120931800	Weak transcription	Placenta	Placenta
15	chr8:120926200-120932600	Weak transcription	Gastric	stomach
16	chr8:120926200-120944400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:120927000-120933000	Enhancers	HepG2	liver
18	chr8:120927000-120934000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:120927200-120931800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr8:120927200-120933200	Enhancers	Fetal Intestine Large	intestine
21	chr8:120927400-120933400	Enhancers	Fetal Intestine Small	intestine
22	chr8:120927600-120933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:120927600-120933000	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:120927600-120933200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:120927800-120931600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:120928000-120931200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:120928000-120931800	Weak transcription	Fetal Kidney	kidney
28	chr8:120928000-120931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:120928200-120931400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:120928400-120933600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:120928600-120933000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:120928600-120933200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:120928600-120933400	Enhancers	Fetal Muscle Leg	muscle
34	chr8:120928800-120931800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:120928800-120933200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:120929200-120931200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:120929400-120932000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr8:120929600-120931200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:120929600-120931200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:120929800-120931200	Weak transcription	Hela-S3	cervix
41	chr8:120929800-120932800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:120930000-120932600	Weak transcription	Left Ventricle	heart
43	chr8:120930200-120931400	Weak transcription	Fetal Stomach	stomach
44	chr8:120930200-120932400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:120930200-120933000	Enhancers	Colonic Mucosa	Colon
46	chr8:120930400-120931200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:120930400-120932200	Enhancers	Brain Hippocampus Middle	brain
48	chr8:120930400-120932400	Enhancers	Brain Angular Gyrus	brain
49	chr8:120930400-120933200	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:120930600-120931800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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