Variant report

Variant	rs61914772
Chromosome Location	chr12:11013319-11013320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1044682	0.89[EUR][1000 genomes]
rs1044683	0.89[EUR][1000 genomes]
rs10492100	0.87[EUR][1000 genomes]
rs10492101	0.87[EUR][1000 genomes]
rs10492102	0.87[EUR][1000 genomes]
rs10772380	0.92[EUR][1000 genomes]
rs10772383	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10772393	0.89[EUR][1000 genomes]
rs10772394	0.89[EUR][1000 genomes]
rs10845247	0.92[EUR][1000 genomes]
rs10845251	0.89[EUR][1000 genomes]
rs10845252	0.89[EUR][1000 genomes]
rs10845253	0.89[EUR][1000 genomes]
rs10845254	0.89[EUR][1000 genomes]
rs10845255	0.86[EUR][1000 genomes]
rs10845256	0.89[EUR][1000 genomes]
rs10845258	0.89[EUR][1000 genomes]
rs10845259	0.88[EUR][1000 genomes]
rs10845260	0.87[EUR][1000 genomes]
rs10845261	0.87[EUR][1000 genomes]
rs10845262	0.87[EUR][1000 genomes]
rs10845263	0.87[EUR][1000 genomes]
rs10845264	0.87[EUR][1000 genomes]
rs11054069	0.90[EUR][1000 genomes]
rs11054082	0.88[EUR][1000 genomes]
rs11054084	0.89[EUR][1000 genomes]
rs11054088	0.89[EUR][1000 genomes]
rs11054089	0.89[EUR][1000 genomes]
rs11054090	0.89[EUR][1000 genomes]
rs11054092	0.89[EUR][1000 genomes]
rs11054093	0.89[EUR][1000 genomes]
rs11054094	0.89[EUR][1000 genomes]
rs11054095	0.89[EUR][1000 genomes]
rs11054096	0.86[EUR][1000 genomes]
rs11054097	0.89[EUR][1000 genomes]
rs11054098	0.89[EUR][1000 genomes]
rs11054099	0.89[EUR][1000 genomes]
rs11054101	0.89[EUR][1000 genomes]
rs11054102	0.89[EUR][1000 genomes]
rs11054103	0.89[EUR][1000 genomes]
rs11054104	0.89[EUR][1000 genomes]
rs11054105	0.89[EUR][1000 genomes]
rs11054106	0.89[EUR][1000 genomes]
rs11054107	0.89[EUR][1000 genomes]
rs11054108	0.89[EUR][1000 genomes]
rs11054109	0.89[EUR][1000 genomes]
rs11054110	0.89[EUR][1000 genomes]
rs11054111	0.89[EUR][1000 genomes]
rs11054112	0.89[EUR][1000 genomes]
rs11054113	0.89[EUR][1000 genomes]
rs11054114	0.87[EUR][1000 genomes]
rs11054115	0.87[EUR][1000 genomes]
rs11054116	0.87[EUR][1000 genomes]
rs11054117	0.89[EUR][1000 genomes]
rs11054118	0.89[EUR][1000 genomes]
rs11054119	0.89[EUR][1000 genomes]
rs11054121	0.89[EUR][1000 genomes]
rs11054122	0.89[EUR][1000 genomes]
rs11054123	0.87[EUR][1000 genomes]
rs11054124	0.87[EUR][1000 genomes]
rs11054125	0.87[EUR][1000 genomes]
rs11611410	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12367487	0.85[EUR][1000 genomes]
rs17742991	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17743605	0.89[EUR][1000 genomes]
rs17810798	0.89[EUR][1000 genomes]
rs2227296	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2418224	0.89[EUR][1000 genomes]
rs3851583	0.87[EUR][1000 genomes]
rs3851586	0.87[EUR][1000 genomes]
rs3851589	0.88[EUR][1000 genomes]
rs4763599	0.89[EUR][1000 genomes]
rs61912245	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61912247	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61912249	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914773	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914781	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61914783	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6488332	0.87[EUR][1000 genomes]
rs7134390	0.89[EUR][1000 genomes]
rs7134527	0.89[EUR][1000 genomes]
rs7137212	0.89[EUR][1000 genomes]
rs7137492	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7138108	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7138360	0.89[EUR][1000 genomes]
rs7138535	0.89[EUR][1000 genomes]
rs7298262	0.92[EUR][1000 genomes]
rs7302130	0.88[EUR][1000 genomes]
rs7302227	0.88[EUR][1000 genomes]
rs7303183	0.89[EUR][1000 genomes]
rs7305795	0.88[EUR][1000 genomes]
rs7308469	0.89[EUR][1000 genomes]
rs7308576	0.88[EUR][1000 genomes]
rs7312169	0.89[EUR][1000 genomes]
rs7398041	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7979199	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049362	chr12:10893573-11018850	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv898776	chr12:10909412-11032045	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs61914772	PRR4	cis	Muscle Skeletal	GTEx
rs61914772	RP11-434C1.1	cis	lung	GTEx
rs61914772	TAS2R14	cis	Esophagus Muscularis	GTEx
rs61914772	PRR4	cis	lung	GTEx
rs61914772	RP11-434C1.1	cis	Heart Left Ventricle	GTEx
rs61914772	RP11-434C1.1	cis	Thyroid	GTEx
rs61914772	TAS2R14	cis	Nerve Tibial	GTEx
rs61914772	PRR4	cis	Heart Left Ventricle	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
2	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11004400-11014200	Weak transcription	Gastric	stomach
5	chr12:11006600-11014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:11007000-11038800	Weak transcription	Psoas Muscle	Psoas
7	chr12:11007200-11039400	Weak transcription	Right Ventricle	heart
8	chr12:11008800-11014000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:11008800-11014000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:11008800-11029400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:11008800-11030000	Weak transcription	HSMMtube	muscle
12	chr12:11009200-11013400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:11009200-11029200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:11009200-11035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:11009200-11045800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:11009600-11030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:11009800-11014200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:11011400-11013800	Weak transcription	Spleen	Spleen
19	chr12:11011400-11014000	Weak transcription	Pancreas	Pancrea
20	chr12:11011400-11014200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:11011600-11013600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:11011600-11014000	Weak transcription	Fetal Brain Male	brain
23	chr12:11011600-11014000	Weak transcription	Fetal Lung	lung
24	chr12:11011600-11030000	Weak transcription	Esophagus	oesophagus
25	chr12:11011800-11013600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:11011800-11014000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:11011800-11029800	Weak transcription	Liver	Liver
28	chr12:11011800-11030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:11011800-11030000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:11011800-11031800	Weak transcription	Thymus	Thymus
31	chr12:11012000-11013600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr12:11012000-11013800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:11012000-11013800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:11012000-11014000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:11012000-11014200	Weak transcription	Left Ventricle	heart
36	chr12:11012000-11014800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:11012000-11021000	Weak transcription	HepG2	liver
38	chr12:11012000-11034200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:11012200-11013400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:11012200-11013800	Weak transcription	Adipose Nuclei	Adipose
41	chr12:11012200-11013800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:11012200-11013800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:11012200-11014000	Weak transcription	Aorta	Aorta
44	chr12:11012200-11014000	Weak transcription	Fetal Intestine Small	intestine
45	chr12:11012200-11014000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:11012200-11014000	Weak transcription	Ovary	ovary
47	chr12:11012200-11014000	Weak transcription	Dnd41	blood
48	chr12:11012200-11031200	Weak transcription	Fetal Stomach	stomach
49	chr12:11012200-11051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:11012200-11055800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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