Variant report

Variant	rs17484093
Chromosome Location	chr12:40627652-40627653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17442283	0.91[CHB][hapmap]
rs17443234	0.91[CHB][hapmap]
rs17444075	0.91[CHB][hapmap]
rs17458100	0.91[CHB][hapmap]
rs17458452	0.91[CHB][hapmap]
rs17466009	0.91[CHB][hapmap]
rs17466227	0.91[CHB][hapmap]
rs17466444	0.91[CHB][hapmap]
rs17467046	0.80[CHB][hapmap]
rs17489542	0.91[CHB][hapmap]
rs17490692	0.91[CHB][hapmap]
rs17490928	0.91[CHB][hapmap]
rs17492173	0.91[CHB][hapmap]
rs17518134	0.91[CHB][hapmap]
rs28365208	0.91[CHB][hapmap]
rs28365241	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619400-40634600	Weak transcription	Spleen	Spleen
2	chr12:40619400-40644400	Weak transcription	Gastric	stomach
3	chr12:40619600-40636400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
6	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:40620400-40630000	Weak transcription	Ovary	ovary
8	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:40620800-40629200	Weak transcription	Stomach Mucosa	stomach
10	chr12:40620800-40629600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:40620800-40634800	Weak transcription	Lung	lung
12	chr12:40620800-40634800	Weak transcription	Pancreas	Pancrea
13	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
17	chr12:40621000-40629200	Weak transcription	Adipose Nuclei	Adipose
18	chr12:40621000-40630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:40621000-40632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:40621200-40631800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:40621200-40632000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:40621400-40629000	Weak transcription	Aorta	Aorta
26	chr12:40621400-40632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:40622800-40629200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
30	chr12:40623800-40628200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr12:40624600-40631200	Weak transcription	A549	lung
32	chr12:40624800-40628000	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:40625000-40628400	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr12:40625800-40627800	Enhancers	GM12878-XiMat	blood
35	chr12:40626400-40629000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:40626400-40630000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr12:40626600-40630600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:40626800-40627800	Weak transcription	Liver	Liver
39	chr12:40627400-40628400	Genic enhancers	Primary B cells from cord blood	blood
40	chr12:40627600-40628200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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