Variant report

Variant	rs11101316
Chromosome Location	chr10:49620565-49620566
allele	C/T
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	chr10:49620234..49623060-chr10:49677590..49681287,3	K562	blood:
4	chr10:49600536..49602318-chr10:49619238..49621122,2	K562	blood:
5	chr10:49619514..49622153-chr10:49622504..49625064,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1009477	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101291	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs11101297	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101301	0.85[AMR][1000 genomes]
rs11101303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11101315	0.85[AMR][1000 genomes]
rs11101319	0.94[YRI][hapmap];0.97[AFR][1000 genomes]
rs12241466	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12241476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12244705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12253926	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12261651	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12261653	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12265885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12266878	0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4240513	1.00[MEX][hapmap]
rs4838601	1.00[MEX][hapmap]
rs59115521	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60051862	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7070529	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7100777	0.85[AMR][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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49599200-49622200	Weak transcription	HepG2	liver
2	chr10:49607600-49624200	Weak transcription	Gastric	stomach
3	chr10:49607600-49624200	Weak transcription	Lung	lung
4	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:49608200-49621000	Weak transcription	Small Intestine	intestine
8	chr10:49608200-49634400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:49609000-49620600	Weak transcription	Hela-S3	cervix
10	chr10:49609200-49620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:49609800-49620600	Weak transcription	Brain Substantia Nigra	brain
12	chr10:49611200-49620600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
14	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
15	chr10:49614600-49622200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:49614600-49623000	Weak transcription	Pancreas	Pancrea
17	chr10:49614800-49620600	Weak transcription	Fetal Heart	heart
18	chr10:49614800-49638400	Weak transcription	HUVEC	blood vessel
19	chr10:49615000-49621200	Weak transcription	NHLF	lung
20	chr10:49615000-49622000	Weak transcription	NHEK	skin
21	chr10:49615000-49622600	Weak transcription	HMEC	breast
22	chr10:49615400-49620600	Weak transcription	HSMMtube	muscle
23	chr10:49615600-49620600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr10:49616000-49621600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:49616000-49621800	Strong transcription	Dnd41	blood
26	chr10:49616200-49621400	Strong transcription	Placenta	Placenta
27	chr10:49616400-49620800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:49616600-49621600	Strong transcription	Fetal Thymus	thymus
29	chr10:49616800-49621600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr10:49616800-49621800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr10:49617200-49620600	Weak transcription	Ovary	ovary
32	chr10:49617200-49624200	Weak transcription	Left Ventricle	heart
33	chr10:49617400-49621400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr10:49617800-49621200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:49618000-49620600	Strong transcription	Brain Cingulate Gyrus	brain
36	chr10:49618000-49621200	Strong transcription	HSMM	muscle
37	chr10:49618000-49621400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:49618200-49620600	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr10:49618200-49621400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:49618200-49621400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr10:49618200-49621600	Strong transcription	Fetal Kidney	kidney
42	chr10:49618400-49620800	ZNF genes & repeats	K562	blood
43	chr10:49618400-49621200	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr10:49618400-49621400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:49618400-49621600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:49618400-49621600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:49618600-49621000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr10:49618800-49621400	ZNF genes & repeats	Fetal Brain Male	brain
49	chr10:49619000-49621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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