Variant report

Variant	rs41264447
Chromosome Location	chr1:159023008-159023009
allele	G/T
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]
rs41264141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55762293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783705	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55940565	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56046690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077216	0.82[EUR][1000 genomes]
rs56208680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56387666	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56390355	0.86[EUR][1000 genomes]
rs61533256	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62621173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704983	0.89[AMR][1000 genomes]
rs72704986	0.94[AMR][1000 genomes]
rs72704995	0.94[AMR][1000 genomes]
rs72709516	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709518	1.00[AMR][1000 genomes]
rs72709521	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709522	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709523	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709525	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709526	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709528	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709530	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709532	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709533	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709535	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709549	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72709553	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709557	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709567	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709573	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72709576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709578	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709580	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709586	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709587	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709590	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709591	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs855869	0.89[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:105 , 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	chr1:158999200-159023800	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:159000000-159026200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:159000400-159024200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:159000600-159023800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:159001000-159027400	Weak transcription	Right Ventricle	heart
15	chr1:159001400-159024200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:159001400-159036200	Weak transcription	Small Intestine	intestine
17	chr1:159001600-159028400	Strong transcription	Fetal Thymus	thymus
18	chr1:159005400-159023200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:159005600-159027200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:159006800-159024200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:159007200-159026800	Weak transcription	Pancreas	Pancrea
22	chr1:159009000-159026400	Strong transcription	Dnd41	blood
23	chr1:159009200-159030400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:159010600-159023800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:159010600-159026400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:159011400-159023800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:159011400-159024000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:159011600-159023800	Strong transcription	Osteobl	bone
29	chr1:159013000-159025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:159015200-159023800	Strong transcription	HSMM	muscle
31	chr1:159016400-159024800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:159016600-159023400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:159016600-159023800	Weak transcription	Stomach Mucosa	stomach
34	chr1:159016800-159023600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:159017000-159025600	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:159017000-159026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:159017600-159023200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:159017800-159023800	Strong transcription	HMEC	breast
39	chr1:159018000-159024400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:159018000-159026000	Strong transcription	Hela-S3	cervix
41	chr1:159018200-159024000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:159018200-159026200	Strong transcription	Ovary	ovary
43	chr1:159019200-159024000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:159019400-159023400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:159019400-159025200	Strong transcription	Liver	Liver
46	chr1:159019400-159026200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:159019600-159023400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:159019600-159023800	Strong transcription	HUVEC	blood vessel
49	chr1:159019600-159023800	Strong transcription	NHDF-Ad	bronchial
50	chr1:159019600-159024800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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