Variant report

Variant	rs2584317
Chromosome Location	chr1:222221566-222221567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11118920	0.89[EUR][1000 genomes]
rs11118930	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11118931	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12031848	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12139468	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1339870	0.90[EUR][1000 genomes]
rs1339873	0.87[ASN][1000 genomes]
rs1416896	0.89[EUR][1000 genomes]
rs1470233	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053510	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2053511	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2053512	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2378499	0.92[EUR][1000 genomes]
rs2584314	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2584315	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2584316	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2584318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584320	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2584321	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584322	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584323	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584324	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584329	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2790744	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2790745	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2790746	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2790747	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2790748	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800848	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2800849	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800861	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800865	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2800866	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800867	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3014719	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56120858	0.89[EUR][1000 genomes]
rs61823931	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604697	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6677832	0.89[EUR][1000 genomes]
rs7538392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222217000-222222400	Weak transcription	Right Ventricle	heart
2	chr1:222217200-222221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:222217400-222223800	Weak transcription	Aorta	Aorta
4	chr1:222218000-222221600	Weak transcription	Brain Germinal Matrix	brain
5	chr1:222218000-222222200	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:222218000-222227800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:222218800-222223000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:222219000-222222200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:222219600-222222400	Weak transcription	Fetal Heart	heart
10	chr1:222220000-222222800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:222220200-222222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:222220200-222222800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:222220400-222222200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:222220400-222222600	Enhancers	Fetal Brain Male	brain
15	chr1:222220600-222221600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:222220600-222222800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:222220600-222222800	Enhancers	HMEC	breast
18	chr1:222220600-222222800	Enhancers	HSMM	muscle
19	chr1:222220600-222222800	Enhancers	NHDF-Ad	bronchial
20	chr1:222220600-222223200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:222220800-222221600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:222220800-222221600	Enhancers	Fetal Stomach	stomach
23	chr1:222220800-222222200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:222220800-222222800	Enhancers	HSMMtube	muscle
25	chr1:222220800-222223000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:222220800-222223000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:222221200-222221800	Enhancers	Brain Angular Gyrus	brain
28	chr1:222221200-222222400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:222221200-222222600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:222221200-222222600	Enhancers	Osteobl	bone
31	chr1:222221200-222222800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:222221200-222222800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:222221200-222222800	Enhancers	Dnd41	blood
34	chr1:222221200-222222800	Enhancers	NHLF	lung
35	chr1:222221200-222223000	Enhancers	GM12878-XiMat	blood
36	chr1:222221400-222221600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:222221400-222222000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:222221400-222222400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:222221400-222222600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:222221400-222222600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:222221400-222222800	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:222221400-222222800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:222221400-222222800	Enhancers	NH-A	brain
44	chr1:222221400-222223000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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