Variant report

Variant	rs12264817
Chromosome Location	chr10:52240612-52240613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11005293	1.00[AMR][1000 genomes]
rs11005626	0.90[YRI][hapmap]
rs11005780	0.93[AFR][1000 genomes]
rs11005832	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005910	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11005959	0.81[YRI][hapmap]
rs11005972	0.83[AFR][1000 genomes]
rs1203375	0.95[YRI][hapmap]
rs1203382	0.85[YRI][hapmap]
rs1203386	0.85[YRI][hapmap]
rs1203394	0.87[YRI][hapmap]
rs1203407	0.81[YRI][hapmap]
rs1203409	0.95[YRI][hapmap]
rs1203410	0.95[YRI][hapmap]
rs1203421	0.95[YRI][hapmap]
rs12241198	0.83[AFR][1000 genomes]
rs12246361	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12257419	0.85[YRI][hapmap]
rs12260887	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs12261287	0.83[AFR][1000 genomes]
rs12263463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12264511	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs12267134	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs7068377	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs7895767	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs920136	0.95[YRI][hapmap]
rs9988708	0.95[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52220000-52243600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:52229800-52242600	Weak transcription	Thymus	Thymus
3	chr10:52229800-52244000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr10:52229800-52252000	Weak transcription	Aorta	Aorta
5	chr10:52230600-52256400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:52231200-52242000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:52231200-52244600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr10:52231200-52257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:52231800-52243000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr10:52232400-52242400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:52234000-52242200	Weak transcription	Psoas Muscle	Psoas
12	chr10:52234000-52243600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:52234000-52261600	Weak transcription	Pancreas	Pancrea
14	chr10:52234200-52246800	Weak transcription	Brain Anterior Caudate	brain
15	chr10:52235200-52243200	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:52237000-52240800	Weak transcription	Fetal Lung	lung
17	chr10:52237000-52242200	Weak transcription	K562	blood
18	chr10:52237000-52243200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr10:52237000-52250400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:52237200-52243200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr10:52237400-52240800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:52237400-52242200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr10:52237800-52255000	Weak transcription	Liver	Liver
24	chr10:52237800-52261800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:52238800-52243400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:52239200-52241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr10:52239200-52243600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr10:52240000-52240800	Strong transcription	Primary T cells from cord blood	blood
29	chr10:52240000-52241000	Enhancers	Left Ventricle	heart
30	chr10:52240000-52241000	Enhancers	Right Atrium	heart
31	chr10:52240000-52241000	Enhancers	Spleen	Spleen
32	chr10:52240000-52241200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr10:52240200-52240800	Enhancers	Esophagus	oesophagus
34	chr10:52240200-52240800	Strong transcription	Fetal Stomach	stomach
35	chr10:52240200-52240800	Enhancers	Lung	lung
36	chr10:52240200-52241000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:52240200-52241000	Strong transcription	Fetal Intestine Small	intestine
38	chr10:52240200-52244000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:52240400-52241200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:52240400-52241800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:52240400-52242000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:52240600-52240800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:52240600-52242400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr10:52240600-52243000	Weak transcription	Primary B cells from cord blood	blood

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