Variant report

Variant	rs16917975
Chromosome Location	chr12:9226984-9226985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16918033	1.00[AMR][1000 genomes]
rs16918120	1.00[AMR][1000 genomes]
rs16918292	1.00[AMR][1000 genomes]
rs1805748	1.00[AMR][1000 genomes]
rs1805764	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1805769	1.00[AMR][1000 genomes]
rs56966204	1.00[AMR][1000 genomes]
rs58537365	1.00[AMR][1000 genomes]
rs59792548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60190629	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7297635	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7304882	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs74060300	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060302	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060475	1.00[AMR][1000 genomes]
rs74060477	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060491	1.00[AMR][1000 genomes]
rs74061403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74061408	1.00[AMR][1000 genomes]
rs74061444	1.00[AMR][1000 genomes]
rs7959773	1.00[EUR][1000 genomes]
rs7980046	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7980288	1.00[MKK][hapmap];0.87[YRI][hapmap]

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9217800-9234200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:9218000-9234000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:9218200-9232200	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:9218200-9236200	Weak transcription	Psoas Muscle	Psoas
5	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
6	chr12:9218400-9228600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:9218400-9230800	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:9218400-9231000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:9218400-9234400	Weak transcription	Right Atrium	heart
10	chr12:9218400-9236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:9218400-9236600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:9218400-9237200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:9218600-9229400	Weak transcription	Colonic Mucosa	Colon
14	chr12:9218600-9235600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:9218600-9235800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:9218600-9236400	Weak transcription	Brain Angular Gyrus	brain
17	chr12:9218800-9230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:9218800-9236200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:9218800-9236200	Weak transcription	Fetal Heart	heart
20	chr12:9219000-9233200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:9219200-9229200	Weak transcription	Gastric	stomach
22	chr12:9219200-9234600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:9219200-9266000	Weak transcription	Esophagus	oesophagus
24	chr12:9219400-9233200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr12:9219800-9233200	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:9219800-9235800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:9220600-9232600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:9220800-9227000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:9220800-9232400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:9221000-9228600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:9222200-9230600	Genic enhancers	Liver	Liver
32	chr12:9222600-9232600	Strong transcription	Fetal Lung	lung
33	chr12:9222600-9233400	Strong transcription	Left Ventricle	heart
34	chr12:9223000-9227600	Strong transcription	Aorta	Aorta
35	chr12:9223000-9228000	Strong transcription	Spleen	Spleen
36	chr12:9223800-9227600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr12:9224000-9227000	Strong transcription	Colon Smooth Muscle	Colon
38	chr12:9224200-9227000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:9224200-9227200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:9224200-9232800	Strong transcription	Right Ventricle	heart
41	chr12:9224400-9227000	Weak transcription	Fetal Brain Male	brain
42	chr12:9224600-9227000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr12:9224800-9227000	Strong transcription	Placenta	Placenta
44	chr12:9224800-9227200	Enhancers	Fetal Intestine Small	intestine
45	chr12:9225000-9227200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:9225000-9227400	Strong transcription	Fetal Stomach	stomach
47	chr12:9225000-9227400	Genic enhancers	HepG2	liver
48	chr12:9225000-9227600	Strong transcription	Lung	lung
49	chr12:9225400-9230600	Weak transcription	Small Intestine	intestine
50	chr12:9225400-9231400	Weak transcription	Rectal Smooth Muscle	rectum

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