Variant report

Variant	rs6469892
Chromosome Location	chr8:121039368-121039369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10755922	0.83[AMR][1000 genomes]
rs1519811	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1519815	0.83[AMR][1000 genomes]
rs1519816	0.83[AMR][1000 genomes]
rs2001252	0.86[AMR][1000 genomes]
rs4364674	0.83[AMR][1000 genomes]
rs4501620	0.83[AMR][1000 genomes]
rs56035307	0.83[AMR][1000 genomes]
rs56833210	0.83[AMR][1000 genomes]
rs59029393	0.83[AMR][1000 genomes]
rs6469881	0.86[AMR][1000 genomes]
rs6469887	0.83[AMR][1000 genomes]
rs6982861	0.83[AMR][1000 genomes]
rs7000361	0.83[AMR][1000 genomes]
rs7000819	0.83[AMR][1000 genomes]
rs7017151	0.95[AMR][1000 genomes]
rs73705874	0.83[AMR][1000 genomes]
rs73705875	0.83[AMR][1000 genomes]
rs73705877	0.83[AMR][1000 genomes]
rs7816108	0.83[AMR][1000 genomes]
rs7817365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7818635	0.82[AMR][1000 genomes]
rs7820945	0.83[AMR][1000 genomes]
rs7835784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7835799	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7836028	0.86[AMR][1000 genomes]
rs7837374	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7845888	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
2	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
4	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
5	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
6	chr8:121019000-121042000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:121020000-121044800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
9	chr8:121021600-121042000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
12	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:121028000-121043800	Weak transcription	Liver	Liver
14	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:121032000-121039600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:121032000-121041800	Weak transcription	Brain Substantia Nigra	brain
17	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
18	chr8:121032200-121041800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:121032200-121041800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:121032200-121044800	Weak transcription	Gastric	stomach
21	chr8:121032400-121044800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:121033000-121046200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:121033800-121039400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:121037400-121040000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:121037800-121040400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:121037800-121041400	Strong transcription	Fetal Intestine Small	intestine
28	chr8:121038200-121041800	Weak transcription	Ovary	ovary
29	chr8:121038200-121043800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:121038200-121044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121038400-121042000	Weak transcription	Fetal Stomach	stomach
32	chr8:121038400-121045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
34	chr8:121038600-121039800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr8:121038600-121044800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:121038800-121039600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:121038800-121040200	Strong transcription	Fetal Intestine Large	intestine
38	chr8:121039000-121040000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:121039200-121041800	Weak transcription	Fetal Muscle Leg	muscle

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