Variant report

Variant	rs28447970
Chromosome Location	chr8:120945746-120945747
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10088028	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095185	1.00[ASN][1000 genomes]
rs10095406	1.00[ASN][1000 genomes]
rs10095508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095955	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097757	1.00[ASN][1000 genomes]
rs10098362	1.00[ASN][1000 genomes]
rs10098796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10099163	1.00[ASN][1000 genomes]
rs10101222	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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];0.94[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109941	1.00[ASN][1000 genomes]
rs10110853	1.00[ASN][1000 genomes]
rs10111725	0.82[AFR][1000 genomes]
rs10113019	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	1.00[ASN][1000 genomes]
rs13439791	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433949	1.00[ASN][1000 genomes]
rs16892875	1.00[ASN][1000 genomes]
rs2139432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393075	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449953	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502370	1.00[ASN][1000 genomes]
rs28529634	1.00[ASN][1000 genomes]
rs28570063	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28575743	1.00[ASN][1000 genomes]
rs28579855	1.00[ASN][1000 genomes]
rs28589493	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28636993	1.00[ASN][1000 genomes]
rs28637899	1.00[ASN][1000 genomes]
rs28673002	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673290	1.00[ASN][1000 genomes]
rs28678910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701610	0.88[AMR][1000 genomes];0.94[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871774	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871818	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55834530	1.00[ASN][1000 genomes]
rs6469842	1.00[ASN][1000 genomes]
rs6469843	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009770	1.00[ASN][1000 genomes]
rs7010474	1.00[ASN][1000 genomes]
rs7010646	1.00[ASN][1000 genomes]
rs7010729	1.00[ASN][1000 genomes]
rs7010887	1.00[ASN][1000 genomes]
rs72673603	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673616	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673617	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673639	1.00[ASN][1000 genomes]
rs72673643	1.00[ASN][1000 genomes]
rs72690149	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[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	1.00[ASN][1000 genomes]
rs956748	1.00[ASN][1000 genomes]
rs9656932	1.00[ASN][1000 genomes]
rs9693192	1.00[ASN][1000 genomes]
rs9987078	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120933000-120946000	Weak transcription	Placenta	Placenta
2	chr8:120933000-120948600	Weak transcription	Colonic Mucosa	Colon
3	chr8:120933000-120948800	Weak transcription	Esophagus	oesophagus
4	chr8:120933200-120946400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:120933200-120946600	Weak transcription	Lung	lung
6	chr8:120933200-120953600	Weak transcription	Right Ventricle	heart
7	chr8:120934000-120950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
10	chr8:120937800-120946800	Weak transcription	Stomach Mucosa	stomach
11	chr8:120939400-120948400	Weak transcription	Brain Anterior Caudate	brain
12	chr8:120939600-120946600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:120940200-120951000	Weak transcription	Osteobl	bone
15	chr8:120940600-120947600	Strong transcription	Liver	Liver
16	chr8:120940600-120950200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:120940600-120950200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:120940800-120947400	Strong transcription	Ovary	ovary
19	chr8:120941200-120948800	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:120941400-120947200	Strong transcription	Fetal Intestine Large	intestine
21	chr8:120941800-120953200	Weak transcription	Fetal Lung	lung
22	chr8:120942200-120945800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:120942200-120946400	Weak transcription	Brain Angular Gyrus	brain
24	chr8:120942200-120946600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:120942400-120946400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:120942400-120947400	Strong transcription	Fetal Stomach	stomach
27	chr8:120942800-120948800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr8:120943200-120946600	Weak transcription	Pancreas	Pancrea
29	chr8:120943600-120946600	Weak transcription	Left Ventricle	heart
30	chr8:120943800-120946600	Weak transcription	Brain Substantia Nigra	brain
31	chr8:120943800-120951400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:120944000-120946600	Weak transcription	Gastric	stomach
33	chr8:120944000-120959200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:120944400-120946200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:120944400-120946600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:120944400-120946600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:120944400-120947200	Enhancers	Fetal Thymus	thymus
38	chr8:120944800-120945800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:120944800-120946600	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:120944800-120946800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:120944800-120947000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:120944800-120947200	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:120945000-120946400	Enhancers	GM12878-XiMat	blood
44	chr8:120945000-120946600	Weak transcription	Adipose Nuclei	Adipose
45	chr8:120945000-120946800	Enhancers	Thymus	Thymus
46	chr8:120945000-120947200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:120945200-120946400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:120945200-120946600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
50	chr8:120945400-120945800	Weak transcription	Duodenum Mucosa	Duodenum

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