Variant report

Variant	rs57216848
Chromosome Location	chr10:49619989-49619990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49615995..49618408-chr10:49619011..49621814,2	K562	blood:
2	chr10:49613649..49616466-chr10:49619116..49621899,2	K562	blood:
3	chr10:49600536..49602318-chr10:49619238..49621122,2	K562	blood:
4	chr10:49619514..49622153-chr10:49622504..49625064,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12265885	1.00[ASN][1000 genomes]
rs55740545	1.00[ASN][1000 genomes]
rs57719423	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57796922	0.81[AFR][1000 genomes]
rs58206495	0.81[AFR][1000 genomes]
rs60303520	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293126	1.00[ASN][1000 genomes]
rs73293156	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293183	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293187	0.81[AFR][1000 genomes]
rs73293190	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293192	0.81[AFR][1000 genomes]
rs73293201	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73293515	0.81[AFR][1000 genomes]
rs73293518	0.81[AFR][1000 genomes]
rs73293521	0.81[AFR][1000 genomes]
rs73293530	0.81[AFR][1000 genomes]
rs73293531	0.81[AFR][1000 genomes]
rs73293538	0.81[AFR][1000 genomes]
rs73293542	0.81[AFR][1000 genomes]
rs73293545	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73294819	0.81[AFR][1000 genomes]
rs73294822	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73296750	0.81[AFR][1000 genomes]
rs73296755	0.81[AFR][1000 genomes]
rs73296791	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73296801	0.81[AFR][1000 genomes]
rs73307989	0.81[AFR][1000 genomes]
rs73308000	0.81[AFR][1000 genomes]
rs73308002	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73309914	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73309915	0.81[AFR][1000 genomes]
rs73309917	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73309927	0.81[AFR][1000 genomes]
rs73309935	0.81[AFR][1000 genomes]
rs73309937	0.81[AFR][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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49599200-49622200	Weak transcription	HepG2	liver
2	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:49607600-49624200	Weak transcription	Gastric	stomach
4	chr10:49607600-49624200	Weak transcription	Lung	lung
5	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:49607800-49620400	Weak transcription	Stomach Mucosa	stomach
8	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
10	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:49608600-49620200	Weak transcription	Right Ventricle	heart
12	chr10:49609000-49620000	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:49609000-49620600	Weak transcription	Hela-S3	cervix
14	chr10:49609200-49620000	Weak transcription	GM12878-XiMat	blood
15	chr10:49609200-49620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:49609800-49620200	Weak transcription	Brain Angular Gyrus	brain
17	chr10:49609800-49620600	Weak transcription	Brain Substantia Nigra	brain
18	chr10:49611200-49620600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
20	chr10:49612400-49620200	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
22	chr10:49614600-49622200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:49614600-49623000	Weak transcription	Pancreas	Pancrea
24	chr10:49614800-49620600	Weak transcription	Fetal Heart	heart
25	chr10:49614800-49638400	Weak transcription	HUVEC	blood vessel
26	chr10:49615000-49621200	Weak transcription	NHLF	lung
27	chr10:49615000-49622000	Weak transcription	NHEK	skin
28	chr10:49615000-49622600	Weak transcription	HMEC	breast
29	chr10:49615200-49620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr10:49615200-49620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:49615400-49620600	Weak transcription	HSMMtube	muscle
32	chr10:49615600-49620600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr10:49616000-49621600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr10:49616000-49621800	Strong transcription	Dnd41	blood
35	chr10:49616200-49621400	Strong transcription	Placenta	Placenta
36	chr10:49616400-49620800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:49616600-49620200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:49616600-49621600	Strong transcription	Fetal Thymus	thymus
39	chr10:49616800-49620000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr10:49616800-49620000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr10:49616800-49620200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr10:49616800-49620200	Strong transcription	Fetal Lung	lung
43	chr10:49616800-49621600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:49616800-49621800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr10:49617200-49620600	Weak transcription	Ovary	ovary
46	chr10:49617200-49624200	Weak transcription	Left Ventricle	heart
47	chr10:49617400-49621400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr10:49617800-49621200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:49618000-49620000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:49618000-49620200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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