Variant report

Variant	rs73583005
Chromosome Location	chr8:52438659-52438660
allele	A/C
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:55)

rs_ID	r²[population]
rs10093325	1.00[AMR][1000 genomes]
rs10099947	1.00[AMR][1000 genomes]
rs10108597	1.00[AMR][1000 genomes]
rs1318142	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2217524	1.00[AMR][1000 genomes]
rs2915506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2979115	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56804147	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57155671	1.00[AMR][1000 genomes]
rs57492114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58900486	1.00[AMR][1000 genomes]
rs59179309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59313662	1.00[AMR][1000 genomes]
rs59625467	1.00[AMR][1000 genomes]
rs59713862	1.00[AMR][1000 genomes]
rs59774513	1.00[AMR][1000 genomes]
rs59882925	1.00[AMR][1000 genomes]
rs59972649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60820519	1.00[AMR][1000 genomes]
rs61134940	1.00[AMR][1000 genomes]
rs61136207	1.00[AMR][1000 genomes]
rs61305961	1.00[AMR][1000 genomes]
rs61336437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61356666	0.84[AFR][1000 genomes]
rs6984579	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6989113	1.00[AMR][1000 genomes]
rs6990005	1.00[AMR][1000 genomes]
rs7013608	1.00[AMR][1000 genomes]
rs73577701	1.00[AMR][1000 genomes]
rs73579639	1.00[AMR][1000 genomes]
rs73579644	1.00[AMR][1000 genomes]
rs73579645	1.00[AMR][1000 genomes]
rs73579656	1.00[AMR][1000 genomes]
rs73579662	1.00[AMR][1000 genomes]
rs73579671	1.00[AMR][1000 genomes]
rs73579673	1.00[AMR][1000 genomes]
rs73579675	1.00[AMR][1000 genomes]
rs73579680	1.00[AMR][1000 genomes]
rs73579682	1.00[AMR][1000 genomes]
rs73579687	1.00[AMR][1000 genomes]
rs73581425	1.00[AMR][1000 genomes]
rs73581432	1.00[AMR][1000 genomes]
rs73583068	1.00[AMR][1000 genomes]
rs73583070	1.00[AMR][1000 genomes]
rs73583076	1.00[AMR][1000 genomes]
rs73583082	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73583098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586772	1.00[AMR][1000 genomes]
rs73588736	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73588737	1.00[AMR][1000 genomes]
rs7831357	1.00[AMR][1000 genomes]
rs7832682	1.00[AMR][1000 genomes]
rs7838528	1.00[AMR][1000 genomes]
rs9785122	1.00[AMR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv890896	chr8:52428061-52454721	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52433400-52443000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52433600-52441000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:52436800-52438800	Enhancers	NH-A	brain
4	chr8:52437000-52439200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:52437400-52438800	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:52437400-52438800	Enhancers	Fetal Lung	lung
7	chr8:52437600-52438800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:52437600-52438800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:52437600-52438800	Active TSS	Aorta	Aorta
10	chr8:52437600-52438800	Enhancers	Brain Germinal Matrix	brain
11	chr8:52437800-52438800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:52437800-52438800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:52437800-52438800	Flanking Active TSS	NHDF-Ad	bronchial
14	chr8:52438000-52440200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:52438200-52438800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:52438200-52438800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:52438200-52438800	Active TSS	Brain Anterior Caudate	brain
18	chr8:52438200-52438800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:52438200-52438800	Enhancers	Esophagus	oesophagus
20	chr8:52438200-52438800	Enhancers	Fetal Muscle Leg	muscle
21	chr8:52438200-52438800	Enhancers	Ovary	ovary
22	chr8:52438200-52438800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:52438200-52439200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:52438200-52439200	Enhancers	Fetal Brain Male	brain
25	chr8:52438400-52438800	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr8:52438400-52438800	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:52438400-52438800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr8:52438400-52438800	Enhancers	HSMM	muscle
29	chr8:52438400-52439400	Enhancers	Hela-S3	cervix
30	chr8:52438600-52438800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:52438600-52438800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:52438600-52438800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:52438600-52438800	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr8:52438600-52438800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr8:52438600-52438800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:52438600-52438800	Flanking Active TSS	Fetal Kidney	kidney
37	chr8:52438600-52438800	Enhancers	Fetal Muscle Trunk	muscle
38	chr8:52438600-52438800	Enhancers	Osteobl	bone
39	chr8:52438600-52439000	Active TSS	GM12878-XiMat	blood
40	chr8:52438600-52442200	Weak transcription	Left Ventricle	heart
41	chr8:52438600-52442800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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