Variant report

Variant	rs10841818
Chromosome Location	chr12:21614601-21614602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10841812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841813	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841820	1.00[ASN][1000 genomes]
rs10841823	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10841830	0.98[ASN][1000 genomes]
rs11046043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11046046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046066	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11046072	1.00[ASN][1000 genomes]
rs11046075	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12371829	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13266	0.99[ASN][1000 genomes]
rs17849408	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28886017	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3809207	0.95[ASN][1000 genomes]
rs6500	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7309377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7964152	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
6	chr12:21592800-21631400	Weak transcription	K562	blood
7	chr12:21593400-21617800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr12:21594000-21617600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:21595600-21626200	Weak transcription	Right Ventricle	heart
10	chr12:21595800-21624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:21595800-21631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:21595800-21632600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:21595800-21633200	Weak transcription	Gastric	stomach
14	chr12:21595800-21650000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:21596000-21631600	Weak transcription	Pancreas	Pancrea
16	chr12:21596200-21625000	Weak transcription	NHLF	lung
17	chr12:21597000-21617800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:21597400-21636000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:21598000-21620000	Weak transcription	A549	lung
20	chr12:21598200-21617800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:21598400-21617800	Strong transcription	Adipose Nuclei	Adipose
22	chr12:21598600-21617600	Strong transcription	Primary B cells from cord blood	blood
23	chr12:21599000-21624400	Weak transcription	Fetal Brain Male	brain
24	chr12:21599000-21629600	Weak transcription	Stomach Mucosa	stomach
25	chr12:21600000-21624400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:21600400-21624400	Weak transcription	Fetal Kidney	kidney
27	chr12:21602600-21617600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:21607000-21645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:21607400-21617600	Strong transcription	Placenta	Placenta
30	chr12:21607600-21617600	Strong transcription	Liver	Liver
31	chr12:21608400-21618200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:21609000-21617400	Strong transcription	Fetal Intestine Large	intestine
33	chr12:21609200-21615000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:21609800-21615600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:21609800-21617800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:21610000-21617600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:21610000-21617800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:21610200-21617800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:21610600-21616400	Strong transcription	Osteobl	bone
40	chr12:21610600-21626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:21611000-21616200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:21611000-21617800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:21611000-21620200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:21611000-21625000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:21611000-21652800	Weak transcription	Small Intestine	intestine
46	chr12:21611000-21653600	Weak transcription	Esophagus	oesophagus
47	chr12:21611200-21616200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:21611200-21631400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:21611200-21640800	Weak transcription	Fetal Heart	heart
50	chr12:21611400-21620000	Weak transcription	HepG2	liver

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