Variant report

Variant	rs2081590
Chromosome Location	chr12:45785843-45785844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10506261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10506262	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880779	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880780	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880781	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880782	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10880783	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183000	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183001	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11183012	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183019	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183027	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183028	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183030	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183034	0.94[EUR][1000 genomes]
rs11183040	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11536237	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11611476	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11612092	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11612531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12230667	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231032	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12578337	0.92[AFR][1000 genomes]
rs12578593	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580984	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12580991	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12809717	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12812732	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12813734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12819619	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12829496	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1316280	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095868	0.81[AMR][1000 genomes]
rs17095871	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17095872	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2081589	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408260	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34031195	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34470081	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34785109	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35634751	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35754392	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35816444	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3803176	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57911796	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58503970	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59893450	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6582546	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7299836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302256	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304126	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308092	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7313617	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965912	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7968063	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7977798	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9788195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
4	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:45763400-45796000	Weak transcription	Osteobl	bone
9	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:45771200-45786600	Strong transcription	Dnd41	blood
13	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
14	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:45771400-45786600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:45772600-45815400	Weak transcription	K562	blood
18	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
20	chr12:45774200-45786600	Strong transcription	Left Ventricle	heart
21	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
22	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:45775600-45787000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:45777000-45786000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:45778000-45795800	Weak transcription	NH-A	brain
27	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:45779400-45794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:45780200-45786400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:45780400-45794400	Weak transcription	Fetal Heart	heart
31	chr12:45780400-45795400	Weak transcription	HSMM	muscle
32	chr12:45780400-45796800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:45780400-45829800	Weak transcription	Brain Anterior Caudate	brain
34	chr12:45780600-45794600	Weak transcription	HMEC	breast
35	chr12:45780600-45795600	Weak transcription	HSMMtube	muscle
36	chr12:45780800-45795600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:45780800-45802000	Weak transcription	Right Ventricle	heart
38	chr12:45782400-45794600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:45782400-45795600	Weak transcription	Fetal Kidney	kidney
40	chr12:45782400-45797200	Weak transcription	Aorta	Aorta
41	chr12:45783000-45786200	Strong transcription	A549	lung
42	chr12:45783200-45818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:45783400-45786800	Strong transcription	Fetal Intestine Large	intestine
44	chr12:45783400-45787800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:45783400-45826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:45783600-45799800	Weak transcription	HepG2	liver
47	chr12:45783800-45786000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:45783800-45786400	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:45783800-45786600	Strong transcription	Liver	Liver
50	chr12:45783800-45786600	Strong transcription	Ovary	ovary

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