Variant report

Variant	rs72794378
Chromosome Location	chr10:49618680-49618681
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs17697837	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697885	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770615	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141515	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289806	0.88[ASN][1000 genomes]
rs2889612	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278434	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306926	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55710197	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914834	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55923567	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037570	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103304	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56195836	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278337	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56361423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56809322	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57775594	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57915819	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59797355	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60449431	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66738605	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66864000	0.92[EUR][1000 genomes]
rs66962508	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67071575	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67646014	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67967483	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72783089	0.84[EUR][1000 genomes]
rs72792260	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792262	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792264	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72792269	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792272	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792274	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792284	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792285	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792290	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792295	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794355	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794356	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794358	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794369	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794372	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794376	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72796303	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796304	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796308	0.91[EUR][1000 genomes];0.96[ASN][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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:49599200-49622200	Weak transcription	HepG2	liver
3	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:49606800-49619800	Weak transcription	Fetal Stomach	stomach
5	chr10:49607600-49619400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:49607600-49619600	Weak transcription	Colonic Mucosa	Colon
7	chr10:49607600-49619600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:49607600-49624200	Weak transcription	Gastric	stomach
9	chr10:49607600-49624200	Weak transcription	Lung	lung
10	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:49607800-49620400	Weak transcription	Stomach Mucosa	stomach
13	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr10:49608200-49619400	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
16	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:49608600-49620200	Weak transcription	Right Ventricle	heart
18	chr10:49609000-49620000	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:49609000-49620600	Weak transcription	Hela-S3	cervix
20	chr10:49609200-49620000	Weak transcription	GM12878-XiMat	blood
21	chr10:49609200-49620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:49609400-49618800	Weak transcription	Fetal Brain Male	brain
23	chr10:49609800-49620200	Weak transcription	Brain Angular Gyrus	brain
24	chr10:49609800-49620600	Weak transcription	Brain Substantia Nigra	brain
25	chr10:49611200-49620600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
27	chr10:49612400-49619600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr10:49612400-49620200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr10:49612800-49619600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
31	chr10:49613400-49619800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr10:49614400-49619400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:49614600-49622200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr10:49614600-49623000	Weak transcription	Pancreas	Pancrea
35	chr10:49614800-49620600	Weak transcription	Fetal Heart	heart
36	chr10:49614800-49638400	Weak transcription	HUVEC	blood vessel
37	chr10:49615000-49621200	Weak transcription	NHLF	lung
38	chr10:49615000-49622000	Weak transcription	NHEK	skin
39	chr10:49615000-49622600	Weak transcription	HMEC	breast
40	chr10:49615200-49620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:49615200-49620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:49615400-49620600	Weak transcription	HSMMtube	muscle
43	chr10:49615600-49620600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr10:49616000-49619600	Strong transcription	Primary B cells from cord blood	blood
45	chr10:49616000-49621600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:49616000-49621800	Strong transcription	Dnd41	blood
47	chr10:49616200-49619400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr10:49616200-49619800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:49616200-49621400	Strong transcription	Placenta	Placenta
50	chr10:49616400-49619800	Strong transcription	Primary hematopoietic stem cells	blood

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