Variant report

Variant	rs10082031
Chromosome Location	chr1:221785497-221785498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10082119	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10449312	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10495171	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11118769	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118771	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058091	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060691	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063275	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12063464	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064012	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12064162	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12067974	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12075242	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12079769	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081273	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082874	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084065	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086252	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086291	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093053	1.00[CEU][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094911	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095828	1.00[CEU][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095905	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13376358	0.88[EUR][1000 genomes]
rs17010395	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010397	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010409	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010428	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010434	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010457	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17010463	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1890243	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1973728	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28515661	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56971545	1.00[EUR][1000 genomes]
rs57255089	1.00[EUR][1000 genomes]
rs58173559	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58482927	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59383649	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59680640	1.00[EUR][1000 genomes]
rs59837278	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60152531	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60217573	1.00[EUR][1000 genomes]
rs61079406	1.00[EUR][1000 genomes]
rs61221236	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73117552	0.88[EUR][1000 genomes]
rs74145360	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145363	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145364	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145365	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145366	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145367	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145373	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74145375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74145378	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145394	0.98[AFR][1000 genomes]
rs74145400	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9308402	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr1:221784600-221786200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:221785000-221786000	Enhancers	Brain Germinal Matrix	brain
3	chr1:221785000-221786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:221785200-221785600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:221785200-221786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:221785200-221786000	Flanking Active TSS	Hela-S3	cervix
7	chr1:221785200-221786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:221785200-221786200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:221785200-221786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:221785200-221786200	Enhancers	Placenta	Placenta
11	chr1:221785200-221786200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:221785200-221786200	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:221785200-221786200	Enhancers	NH-A	brain
14	chr1:221785200-221786400	Enhancers	Fetal Lung	lung
15	chr1:221785200-221786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:221785200-221786600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:221785200-221786600	Enhancers	NHDF-Ad	bronchial
18	chr1:221785200-221786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:221785400-221785600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:221785400-221785800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:221785400-221785800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:221785400-221786000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:221785400-221786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:221785400-221786000	Enhancers	Adipose Nuclei	Adipose
25	chr1:221785400-221786000	Enhancers	Brain Hippocampus Middle	brain
26	chr1:221785400-221786000	Enhancers	Ovary	ovary
27	chr1:221785400-221786000	Enhancers	NHLF	lung
28	chr1:221785400-221786200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:221785400-221786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:221785400-221786200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:221785400-221786200	Enhancers	Fetal Stomach	stomach
32	chr1:221785400-221786200	Flanking Active TSS	A549	lung
33	chr1:221785400-221786200	Enhancers	HSMMtube	muscle
34	chr1:221785400-221786200	Enhancers	K562	blood
35	chr1:221785400-221786200	Enhancers	Osteobl	bone
36	chr1:221785400-221786400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:221785400-221786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:221785400-221786400	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:221785400-221786400	Enhancers	NHEK	skin
40	chr1:221785400-221786800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:221785400-221786800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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