Variant report

Variant	rs4360778
Chromosome Location	chr12:11008345-11008346
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12300797	1.00[AMR][1000 genomes]
rs12302178	1.00[AMR][1000 genomes]
rs1972571	0.96[AFR][1000 genomes]
rs2159901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2597986	1.00[AMR][1000 genomes]
rs2900551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3983357	1.00[AMR][1000 genomes]
rs3983358	1.00[AMR][1000 genomes]
rs4763583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4763584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488339	1.00[AMR][1000 genomes]
rs7139132	1.00[AMR][1000 genomes]
rs7139268	1.00[AMR][1000 genomes]
rs7301324	1.00[AMR][1000 genomes]
rs7312325	1.00[AMR][1000 genomes]
rs7312662	1.00[AMR][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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10973600-11009600	Weak transcription	HSMM	muscle
2	chr12:10988400-11008400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:10989200-11008600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:10990000-11008400	Weak transcription	Fetal Lung	lung
5	chr12:10990200-11008400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:10991400-11010800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:10993800-11008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:10994000-11008400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:10994000-11008400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:10994200-11008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:10994200-11008400	Weak transcription	Thymus	Thymus
12	chr12:10994200-11008400	Weak transcription	HepG2	liver
13	chr12:10994200-11008600	Weak transcription	Spleen	Spleen
14	chr12:10994400-11008400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:10994400-11035000	Weak transcription	Fetal Kidney	kidney
16	chr12:10994800-11008400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:10995600-11010800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:10995800-11008400	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:10998200-11008600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:10998600-11008400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:10998600-11034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:10999000-11010600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:10999000-11029200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:10999200-11008400	Weak transcription	Fetal Thymus	thymus
25	chr12:10999800-11008600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:11000000-11008400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:11000000-11008400	Weak transcription	Fetal Stomach	stomach
28	chr12:11000000-11008600	Weak transcription	Liver	Liver
29	chr12:11000000-11010400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:11000200-11008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:11001200-11008400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:11001400-11008600	Weak transcription	Adipose Nuclei	Adipose
33	chr12:11001600-11008400	Weak transcription	Ovary	ovary
34	chr12:11001800-11011400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:11002400-11008400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:11002400-11008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:11004400-11008400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:11004400-11008600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:11004400-11009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:11004400-11009000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:11004400-11014200	Weak transcription	Gastric	stomach
42	chr12:11004800-11008400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:11004800-11008600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:11005600-11008400	Weak transcription	HSMMtube	muscle
45	chr12:11006400-11008400	Strong transcription	Dnd41	blood
46	chr12:11006400-11010800	Weak transcription	Pancreas	Pancrea
47	chr12:11006600-11008400	Weak transcription	Esophagus	oesophagus
48	chr12:11006600-11010200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:11006600-11014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:11006800-11008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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