Variant report

Variant	rs72709549
Chromosome Location	chr1:159020366-159020367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs3754459	0.82[EUR][1000 genomes]
rs41264141	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41264447	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55762293	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55783705	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55940565	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56046690	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56208680	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56387666	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56390355	0.89[EUR][1000 genomes]
rs61533256	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62621173	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72704983	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72704986	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72704995	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709516	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709518	1.00[AMR][1000 genomes]
rs72709521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709553	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709557	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709567	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709568	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709569	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709570	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709573	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72709576	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709578	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709580	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709586	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709587	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709590	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709591	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs855869	0.86[EUR][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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
3	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
5	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:158993000-159023200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:158998400-159024000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:158998800-159033800	Weak transcription	Fetal Brain Female	brain
10	chr1:158999000-159022800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:158999200-159023800	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:159000000-159026200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:159000400-159024200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:159000600-159023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:159001000-159027400	Weak transcription	Right Ventricle	heart
16	chr1:159001400-159024200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:159001400-159036200	Weak transcription	Small Intestine	intestine
18	chr1:159001600-159028400	Strong transcription	Fetal Thymus	thymus
19	chr1:159003000-159022000	Weak transcription	Fetal Brain Male	brain
20	chr1:159003400-159021400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:159003400-159021400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:159004600-159022800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:159005400-159023200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:159005600-159027200	Weak transcription	Brain Angular Gyrus	brain
25	chr1:159006800-159024200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:159007200-159026800	Weak transcription	Pancreas	Pancrea
27	chr1:159009000-159023000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:159009000-159026400	Strong transcription	Dnd41	blood
29	chr1:159009200-159030400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:159010600-159023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:159010600-159026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:159011200-159020400	Weak transcription	Aorta	Aorta
33	chr1:159011400-159022800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:159011400-159023800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:159011400-159024000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:159011600-159023800	Strong transcription	Osteobl	bone
37	chr1:159013000-159020400	Weak transcription	Fetal Stomach	stomach
38	chr1:159013000-159025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:159015200-159023800	Strong transcription	HSMM	muscle
40	chr1:159016400-159020400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:159016400-159024800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:159016600-159023400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:159016600-159023800	Weak transcription	Stomach Mucosa	stomach
44	chr1:159016800-159023600	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:159017000-159023000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:159017000-159025600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:159017000-159026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:159017200-159021000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:159017600-159023200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:159017800-159023800	Strong transcription	HMEC	breast

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