Variant report

Variant	rs12945784
Chromosome Location	chr17:38855813-38855814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38848480..38850542-chr17:38853579..38856285,2	K562	blood:
2	chr17:38850958..38852592-chr17:38854766..38857162,2	K562	blood:
3	chr17:38796377..38799257-chr17:38854775..38858682,3	MCF-7	breast:
4	chr17:38801632..38805923-chr17:38849683..38856183,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073584	Chromatin interaction

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

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

rs_ID	r²[population]
rs12938105	0.90[AFR][1000 genomes]
rs12939122	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12945365	0.90[AFR][1000 genomes]
rs12946793	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs35078263	0.90[AFR][1000 genomes]
rs35163875	1.00[AFR][1000 genomes]
rs35401703	0.90[AFR][1000 genomes]
rs35494992	0.90[AFR][1000 genomes]
rs35650621	0.90[AFR][1000 genomes]
rs35671506	1.00[AFR][1000 genomes]
rs35907708	0.90[AFR][1000 genomes]
rs36105662	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs60488918	0.90[AFR][1000 genomes]
rs71371441	1.00[AFR][1000 genomes]
rs71371442	0.90[AFR][1000 genomes]
rs71383382	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv908225	chr17:38776406-38868480	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38853000-38859800	Weak transcription	Pancreas	Pancrea
2	chr17:38853200-38856200	Weak transcription	Gastric	stomach
3	chr17:38853200-38858400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr17:38853400-38864000	Weak transcription	A549	lung
5	chr17:38853800-38859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:38853800-38859800	Weak transcription	NHEK	skin
7	chr17:38853800-38864000	Weak transcription	Right Atrium	heart
8	chr17:38854000-38858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:38854000-38858600	Weak transcription	Hela-S3	cervix
10	chr17:38854000-38861800	Weak transcription	HMEC	breast
11	chr17:38854000-38875800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:38855400-38856000	Enhancers	Fetal Muscle Leg	muscle
13	chr17:38855400-38856600	Enhancers	Adipose Nuclei	Adipose
14	chr17:38855400-38856600	Enhancers	Fetal Muscle Trunk	muscle
15	chr17:38855400-38856600	Enhancers	Placenta	Placenta
16	chr17:38855400-38856600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr17:38855600-38856600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:38855600-38856600	Enhancers	Fetal Lung	lung
19	chr17:38855600-38856600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr17:38855600-38856600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr17:38855800-38856000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:38855800-38856400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:38855800-38856600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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