Variant report

Variant	rs72673603
Chromosome Location	chr8:120900058-120900059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10086597	1.00[ASN][1000 genomes]
rs10088028	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089043	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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095955	0.89[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10099163	1.00[ASN][1000 genomes]
rs10101222	0.95[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	0.84[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	0.91[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	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12386881	0.81[AFR][1000 genomes]
rs13439791	0.96[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]
rs16893011	1.00[ASN][1000 genomes]
rs16893021	1.00[ASN][1000 genomes]
rs16893034	1.00[ASN][1000 genomes]
rs2139432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2164021	1.00[ASN][1000 genomes]
rs28393075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447970	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449953	0.86[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	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28579855	1.00[ASN][1000 genomes]
rs28589493	1.00[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	0.91[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	1.00[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	0.89[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	0.82[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	0.82[AFR][1000 genomes];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	1.00[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	0.85[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	0.93[AFR][1000 genomes]
rs72673616	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673617	0.95[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	1.00[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	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs956748	1.00[ASN][1000 genomes]
rs9656932	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9693192	1.00[ASN][1000 genomes]
rs9987078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987272	0.85[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	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
2	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
4	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
5	chr8:120889600-120902200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:120889600-120905400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:120889800-120903200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:120889800-120903600	Weak transcription	Fetal Stomach	stomach
9	chr8:120890000-120905400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:120891200-120903800	Weak transcription	Fetal Intestine Large	intestine
11	chr8:120891800-120902200	Weak transcription	Fetal Intestine Small	intestine
12	chr8:120895600-120903600	Weak transcription	Fetal Lung	lung
13	chr8:120896200-120904800	Weak transcription	HSMMtube	muscle
14	chr8:120896400-120903600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:120897200-120901600	Enhancers	Colon Smooth Muscle	Colon
16	chr8:120897600-120904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:120897800-120901800	Enhancers	Brain Substantia Nigra	brain
18	chr8:120898000-120901200	Enhancers	Brain Hippocampus Middle	brain
19	chr8:120898400-120901600	Enhancers	Ovary	ovary
20	chr8:120898400-120901800	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:120898400-120901800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr8:120898400-120902200	Enhancers	Brain Anterior Caudate	brain
23	chr8:120898600-120903400	Weak transcription	Adipose Nuclei	Adipose
24	chr8:120898800-120903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:120898800-120905000	Weak transcription	Small Intestine	intestine
26	chr8:120898800-120907600	Weak transcription	Gastric	stomach
27	chr8:120899000-120900600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:120899000-120901800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:120899200-120903600	Weak transcription	Stomach Mucosa	stomach
30	chr8:120899200-120903800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:120899400-120903800	Weak transcription	Liver	Liver
32	chr8:120899600-120903000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:120899600-120905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:120899800-120900200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr8:120899800-120900200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:120899800-120900200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:120899800-120900200	Enhancers	Fetal Muscle Trunk	muscle
38	chr8:120899800-120900200	Enhancers	Lung	lung
39	chr8:120899800-120900200	Enhancers	Psoas Muscle	Psoas
40	chr8:120899800-120900800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:120899800-120900800	Enhancers	Fetal Muscle Leg	muscle
42	chr8:120899800-120902200	Enhancers	Brain Angular Gyrus	brain
43	chr8:120900000-120900800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr8:120900000-120901000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:120900000-120904600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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