Variant report

Variant	rs60657932
Chromosome Location	chr8:121012799-121012800
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10110144	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1051534	0.80[AMR][1000 genomes]
rs10955946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955947	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986202	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11995866	0.82[AMR][1000 genomes]
rs12680396	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13266382	0.88[AMR][1000 genomes]
rs13272368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356748	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2139434	0.89[AMR][1000 genomes]
rs2326429	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28650977	0.81[AMR][1000 genomes]
rs4584180	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4870970	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4871719	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871821	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871822	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871827	0.80[AMR][1000 genomes]
rs58564644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62528700	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6469889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469890	0.96[ASN][1000 genomes]
rs6997067	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833689	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9642847	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643139	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9643140	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120978000-121013600	Weak transcription	Gastric	stomach
2	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
3	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:120995800-121013800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:121000600-121019600	Weak transcription	Left Ventricle	heart
6	chr8:121001800-121015600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:121001800-121021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:121003200-121015200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:121003200-121015200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:121003600-121013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:121003600-121013400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:121003600-121013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:121003600-121015200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:121003800-121013400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:121003800-121014800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:121003800-121015200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:121004000-121013800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:121004000-121017600	Weak transcription	Right Atrium	heart
19	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
20	chr8:121004600-121013400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:121004600-121013600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:121004600-121015200	Weak transcription	Brain Anterior Caudate	brain
23	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
24	chr8:121004800-121017400	Weak transcription	Fetal Kidney	kidney
25	chr8:121005000-121013600	Weak transcription	Ovary	ovary
26	chr8:121005200-121015200	Weak transcription	Spleen	Spleen
27	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
28	chr8:121005600-121015600	Weak transcription	Adipose Nuclei	Adipose
29	chr8:121005800-121015000	Weak transcription	Brain Substantia Nigra	brain
30	chr8:121006000-121013800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:121006000-121013800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:121006400-121015200	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:121006600-121015200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:121007000-121013400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:121007000-121015200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:121011000-121013800	Weak transcription	Fetal Intestine Large	intestine
37	chr8:121011000-121016200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:121011400-121014000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:121011800-121014000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:121011800-121021000	Weak transcription	Thymus	Thymus
41	chr8:121012000-121015000	Weak transcription	Liver	Liver
42	chr8:121012200-121012800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:121012200-121013400	Weak transcription	Osteobl	bone
44	chr8:121012200-121013600	Weak transcription	Esophagus	oesophagus
45	chr8:121012200-121014400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:121012200-121015200	Weak transcription	Pancreas	Pancrea
47	chr8:121012200-121022200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:121012400-121012800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:121012400-121013600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:121012600-121013400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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