Variant report

Variant	rs17443546
Chromosome Location	chr12:40655686-40655687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17442283	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17443234	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17444075	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17445098	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17458452	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17466009	0.89[CHB][hapmap]
rs17466227	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs17466444	0.89[CHB][hapmap]
rs17467046	0.89[CHB][hapmap]
rs17489542	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17490692	0.89[CHB][hapmap]
rs17490928	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17492173	0.89[CHB][hapmap]
rs28365208	0.89[CHB][hapmap]
rs28365241	0.89[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	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
3	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
3	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
5	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
6	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
10	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
15	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
16	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:40643000-40659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:40646800-40658000	Weak transcription	A549	lung
20	chr12:40647600-40674000	Weak transcription	Lung	lung
21	chr12:40648600-40657600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:40648800-40659200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:40648800-40659800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:40649000-40659200	Weak transcription	Ovary	ovary
25	chr12:40649600-40657800	Weak transcription	Adipose Nuclei	Adipose
26	chr12:40649600-40659200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:40650400-40656000	Strong transcription	Liver	Liver
28	chr12:40654200-40659000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:40654400-40659200	Weak transcription	Aorta	Aorta
30	chr12:40654600-40659000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:40654800-40659200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:40655200-40657200	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:40655200-40658400	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:40655600-40656200	Enhancers	GM12878-XiMat	blood
35	chr12:40655600-40658200	Enhancers	Primary B cells from cord blood	blood

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