Variant report

Variant	rs72704983
Chromosome Location	chr1:158993647-158993648
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:39)

rs_ID	r²[population]
rs41264141	0.89[AMR][1000 genomes]
rs41264447	0.89[AMR][1000 genomes]
rs55762293	0.89[AMR][1000 genomes]
rs55783705	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55940565	0.89[AMR][1000 genomes]
rs56046690	0.89[AMR][1000 genomes]
rs56208680	0.89[AMR][1000 genomes]
rs56387666	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56390355	0.93[EUR][1000 genomes]
rs61533256	0.83[EUR][1000 genomes]
rs62621173	0.89[AMR][1000 genomes]
rs72704986	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72704995	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709516	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709518	0.89[AMR][1000 genomes]
rs72709521	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709522	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709523	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709525	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709526	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709528	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709530	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709532	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709533	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709535	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709548	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709549	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709568	0.89[AMR][1000 genomes]
rs72709569	0.89[AMR][1000 genomes]
rs72709570	0.89[AMR][1000 genomes]
rs72709573	0.89[AMR][1000 genomes]
rs72709576	0.89[AMR][1000 genomes]
rs72709578	0.84[AMR][1000 genomes]
rs72709580	0.84[AMR][1000 genomes]
rs72709586	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709587	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709590	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709591	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs855869	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158976000-159000800	Weak transcription	Gastric	stomach
2	chr1:158980200-159025400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:158982600-159027400	Weak transcription	Fetal Kidney	kidney
4	chr1:158982800-159000200	Weak transcription	Aorta	Aorta
5	chr1:158984000-159000800	Weak transcription	Right Ventricle	heart
6	chr1:158984200-159024200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:158984400-158995200	Strong transcription	Fetal Intestine Large	intestine
8	chr1:158984800-159027400	Weak transcription	Psoas Muscle	Psoas
9	chr1:158985400-159023800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:158985600-158995200	Strong transcription	Thymus	Thymus
11	chr1:158985800-158994400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:158985800-158995200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:158985800-159005000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:158986000-158994000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:158986000-158995000	Strong transcription	HSMM	muscle
16	chr1:158986000-158995200	Strong transcription	Osteobl	bone
17	chr1:158986000-159016200	Weak transcription	Stomach Mucosa	stomach
18	chr1:158987000-158995000	Strong transcription	HUVEC	blood vessel
19	chr1:158987000-158995200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:158987000-159000200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:158987000-159000400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:158987200-158996200	Strong transcription	Primary hematopoietic stem cells	blood
23	chr1:158987200-158998400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:158987200-159000000	Weak transcription	Small Intestine	intestine
25	chr1:158987200-159000200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:158987200-159000400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:158987200-159001200	Strong transcription	Fetal Thymus	thymus
28	chr1:158987600-158996400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:158987800-159000200	Weak transcription	Esophagus	oesophagus
30	chr1:158988000-158995200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:158988000-159002200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:158988200-159000000	Weak transcription	HSMMtube	muscle
33	chr1:158988200-159000200	Weak transcription	Left Ventricle	heart
34	chr1:158988200-159016600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:158988400-159002400	Weak transcription	Fetal Brain Male	brain
36	chr1:158988600-158995600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:158988600-159024000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:158988800-158994000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:158988800-158994800	Weak transcription	Ovary	ovary
40	chr1:158988800-158999000	Genic enhancers	Dnd41	blood
41	chr1:158988800-159000800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:158989000-158994800	Strong transcription	Primary T cells from cord blood	blood
43	chr1:158989000-158996000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:158989000-159002400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:158989000-159003000	Weak transcription	Colonic Mucosa	Colon
46	chr1:158989600-158993800	Strong transcription	NH-A	brain
47	chr1:158989600-158996800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr1:158989800-158995000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:158989800-159004200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:158990000-158994800	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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