Variant report

Variant	rs11183001
Chromosome Location	chr12:45755647-45755648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10506261	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10506262	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880779	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880780	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880781	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880782	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880783	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183004	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183009	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183012	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11183019	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183027	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183028	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183030	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11183034	0.92[EUR][1000 genomes]
rs11183040	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11536237	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611476	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11612092	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11612531	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12230667	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231032	0.91[EUR][1000 genomes]
rs12578337	0.93[AFR][1000 genomes]
rs12578593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580984	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12809717	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12812732	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12813734	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12819619	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12829496	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1316280	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17095871	0.92[EUR][1000 genomes]
rs17095872	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2081589	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2081590	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408260	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34031195	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34470081	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34785109	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35634751	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35754392	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35816444	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3803176	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57911796	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58503970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59893450	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6582546	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299836	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302251	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302256	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7304126	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7308092	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7313617	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7965912	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7968063	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7977798	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9788195	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788251	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
7	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
9	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
10	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
12	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:45745000-45779800	Weak transcription	Gastric	stomach
14	chr12:45745200-45755800	Weak transcription	HSMM	muscle
15	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
18	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
20	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:45749800-45756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:45749800-45756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:45749800-45757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:45749800-45757000	Weak transcription	Lung	lung
26	chr12:45750000-45757000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:45750000-45757000	Weak transcription	Placenta	Placenta
28	chr12:45750000-45762600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:45750000-45772200	Weak transcription	K562	blood
31	chr12:45752000-45755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:45752000-45756800	Weak transcription	Fetal Intestine Small	intestine
33	chr12:45752000-45762200	Weak transcription	HUVEC	blood vessel
34	chr12:45752200-45756200	Weak transcription	Osteobl	bone
35	chr12:45752200-45756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:45752200-45756400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:45752200-45756800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:45752200-45756800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:45752200-45756800	Weak transcription	Thymus	Thymus
40	chr12:45752200-45756800	Weak transcription	HepG2	liver
41	chr12:45752200-45757000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:45752200-45757000	Weak transcription	Fetal Stomach	stomach
43	chr12:45752200-45757000	Weak transcription	Left Ventricle	heart
44	chr12:45752200-45757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:45752200-45757600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:45752200-45757600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:45752200-45762200	Weak transcription	Right Ventricle	heart
48	chr12:45752200-45762400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:45752200-45762600	Weak transcription	HSMMtube	muscle
50	chr12:45752200-45762600	Weak transcription	NH-A	brain

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