Variant report

Variant	rs72680552
Chromosome Location	chr8:121582890-121582891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10089944	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10104248	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10104255	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10108821	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10109195	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10113166	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28415690	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28561998	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28716772	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329308	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4338145	0.83[EUR][1000 genomes]
rs4409430	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4448320	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4514023	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4514024	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4515596	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4521809	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4556123	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55646138	0.82[EUR][1000 genomes]
rs55704534	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57500848	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57589495	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57622256	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57854118	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57931690	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58181006	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58342310	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929354	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59896584	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60307797	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61312574	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469936	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981454	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999024	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010052	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017780	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72680550	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72680551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680554	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72680558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680559	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680564	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680565	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73705090	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73707305	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812594	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7824846	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826902	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827232	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827807	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7828280	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7835353	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7845125	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7845469	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121557800-121597400	Weak transcription	Osteobl	bone
3	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
4	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
7	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:121561200-121586800	Weak transcription	Gastric	stomach
10	chr8:121561200-121586800	Weak transcription	Lung	lung
11	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
12	chr8:121561400-121583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:121561400-121585400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:121561400-121586000	Weak transcription	NHLF	lung
15	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:121561800-121583000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:121561800-121585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:121568400-121586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:121568600-121585400	Weak transcription	Primary B cells from cord blood	blood
20	chr8:121568600-121586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:121568600-121586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:121569800-121586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:121570200-121584400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:121570200-121585200	Weak transcription	Primary T cells from cord blood	blood
25	chr8:121572400-121592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:121575200-121592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:121575400-121585800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:121575600-121597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:121575800-121587400	Weak transcription	NHDF-Ad	bronchial
30	chr8:121577600-121589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:121578800-121586200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:121579600-121587400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:121580400-121587800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:121580400-121593000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:121581000-121592400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:121581000-121592400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:121581200-121586400	Weak transcription	Aorta	Aorta
38	chr8:121581400-121593600	Strong transcription	HepG2	liver
39	chr8:121581600-121583200	Strong transcription	Spleen	Spleen
40	chr8:121581600-121589200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:121582000-121583200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:121582200-121583200	Enhancers	Psoas Muscle	Psoas
43	chr8:121582400-121588400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:121582600-121583200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:121582600-121583400	Strong transcription	Fetal Intestine Large	intestine
46	chr8:121582600-121585200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:121582600-121586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:121582600-121589600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr8:121582800-121583000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:121582800-121583600	Strong transcription	HSMM	muscle

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