Variant report

Variant	rs12320609
Chromosome Location	chr12:30890003-30890004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10734793	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10771760	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10771761	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843818	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843819	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843820	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843821	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10843822	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843823	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843824	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843827	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843828	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10843829	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10843831	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843832	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051045	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051047	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051049	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11835180	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12368923	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35336533	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487934	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6487936	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7299800	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7958274	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7958276	0.97[AMR][1000 genomes];0.93[EUR][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30858000-30891800	Weak transcription	Fetal Heart	heart
2	chr12:30859200-30892200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30861400-30906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:30861400-30906600	Weak transcription	Small Intestine	intestine
5	chr12:30861800-30894600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:30861800-30895200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:30862200-30895000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:30862400-30895600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30863400-30891000	Weak transcription	GM12878-XiMat	blood
10	chr12:30863400-30906400	Weak transcription	Spleen	Spleen
11	chr12:30863400-30906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:30864600-30905200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:30871400-30900800	Weak transcription	K562	blood
14	chr12:30872200-30903800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:30872400-30903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:30874600-30899000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:30876000-30906600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:30876200-30894800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:30878000-30899200	Weak transcription	Fetal Brain Male	brain
20	chr12:30878000-30904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:30878000-30904400	Weak transcription	Pancreas	Pancrea
22	chr12:30878200-30906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:30878800-30906600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:30879600-30899400	Weak transcription	NHDF-Ad	bronchial
25	chr12:30879800-30895000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:30879800-30905800	Weak transcription	NHLF	lung
27	chr12:30880000-30893800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:30882000-30899200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:30882000-30899200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:30882000-30906800	Weak transcription	Psoas Muscle	Psoas
31	chr12:30882200-30891200	Weak transcription	Adipose Nuclei	Adipose
32	chr12:30882200-30892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:30882200-30892000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:30882200-30894600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:30882200-30899000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:30882200-30899200	Weak transcription	Aorta	Aorta
37	chr12:30882200-30905600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:30882200-30905800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:30882200-30906200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:30882200-30906400	Weak transcription	Lung	lung
41	chr12:30882200-30906400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:30882200-30906600	Weak transcription	Placenta	Placenta
43	chr12:30882200-30906800	Weak transcription	Esophagus	oesophagus
44	chr12:30882400-30891400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:30882400-30891800	Weak transcription	Fetal Kidney	kidney
46	chr12:30882400-30892000	Weak transcription	Dnd41	blood
47	chr12:30882400-30905400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:30882400-30906600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:30882600-30905400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:30882600-30906200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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