Variant report

Variant	rs17490858
Chromosome Location	chr12:40659608-40659609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40658480..40661049-chr12:40663809..40666158,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17491828	1.00[AMR][1000 genomes]
rs17491835	1.00[AMR][1000 genomes]
rs17520620	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17520648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:34 , 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	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
4	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
8	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
12	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
13	chr12:40641200-40662800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:40647600-40674000	Weak transcription	Lung	lung
16	chr12:40648800-40659800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:40659000-40660600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr12:40659400-40677800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:40659400-40678600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:40659400-40678600	Weak transcription	Ovary	ovary
22	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
23	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:40659600-40661000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:40659600-40661000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:40659600-40669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:40659600-40670000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:40659600-40670000	Weak transcription	Adipose Nuclei	Adipose
29	chr12:40659600-40670000	Weak transcription	Liver	Liver
30	chr12:40659600-40677000	Weak transcription	A549	lung
31	chr12:40659600-40680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:40659600-40680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
34	chr12:40659600-40711200	Weak transcription	Aorta	Aorta

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