Variant report

Variant	rs12367193
Chromosome Location	chr12:48047659-48047660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10783212	0.94[ASN][1000 genomes]
rs10875666	0.82[EUR][1000 genomes]
rs10875677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875682	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875686	0.81[ASN][1000 genomes]
rs11168191	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168192	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168193	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11168199	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168200	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168203	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168208	0.86[ASN][1000 genomes]
rs12366410	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370643	0.96[ASN][1000 genomes]
rs1541384	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283346	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3764013	0.84[ASN][1000 genomes]
rs56011001	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56240307	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs582680	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs583752	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs602143	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs604662	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs605499	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs611627	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs612773	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61917590	0.94[ASN][1000 genomes]
rs61917591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61917594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61917595	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs622098	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs623894	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs630777	0.94[ASN][1000 genomes]
rs632944	0.94[ASN][1000 genomes]
rs634833	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs642453	0.85[EUR][1000 genomes]
rs644531	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs646223	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs652380	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs653136	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6580634	0.92[ASN][1000 genomes]
rs658567	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs659836	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs668968	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs671961	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679789	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs687676	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7136143	0.82[EUR][1000 genomes]
rs7136561	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7137529	0.96[ASN][1000 genomes]
rs7311663	0.97[ASN][1000 genomes]
rs7316761	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs739858	0.82[EUR][1000 genomes]
rs7954502	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968783	0.82[EUR][1000 genomes]
rs7969186	0.87[ASN][1000 genomes]
rs7976748	0.86[ASN][1000 genomes]
rs7977613	0.97[ASN][1000 genomes]
rs7977786	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs864112	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv521329	chr12:48044011-48051456	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv975649	chr12:48047382-48053390	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12367193	ENDOU	cis	Thyroid	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
4	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
6	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48036600-48055400	Weak transcription	Ovary	ovary
10	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
11	chr12:48038600-48051400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:48039000-48052800	Weak transcription	Dnd41	blood
13	chr12:48039200-48052800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:48039400-48058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:48040000-48051400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:48040200-48050000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
18	chr12:48042200-48058400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:48042600-48054800	Weak transcription	Placenta	Placenta
21	chr12:48043200-48054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:48043400-48080000	Weak transcription	NHEK	skin
23	chr12:48043800-48053600	Weak transcription	Left Ventricle	heart
24	chr12:48043800-48055600	Weak transcription	Right Ventricle	heart
25	chr12:48045000-48051800	Weak transcription	Aorta	Aorta
26	chr12:48045000-48055200	Weak transcription	NH-A	brain
27	chr12:48045200-48052000	Weak transcription	Brain Germinal Matrix	brain
28	chr12:48045200-48059600	Weak transcription	HMEC	breast
29	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
30	chr12:48045200-48079200	Weak transcription	NHLF	lung
31	chr12:48045400-48053800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:48045400-48055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:48045600-48050400	Weak transcription	Fetal Thymus	thymus
34	chr12:48045600-48050800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:48045600-48051000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:48045600-48053000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:48045600-48054600	Weak transcription	Osteobl	bone
38	chr12:48045600-48055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:48045600-48055800	Weak transcription	Hela-S3	cervix
40	chr12:48045600-48056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
42	chr12:48045800-48052800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:48045800-48052800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:48045800-48053000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:48045800-48058200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:48045800-48058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:48046000-48052200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:48046000-48055400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:48046000-48058400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:48046200-48053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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