Variant report

Variant	rs17795280
Chromosome Location	chr12:104271821-104271822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104271423..104272333-chr12:104502657..104503502,3	MCF-7	breast:
2	chr12:104266210..104268346-chr12:104271343..104272994,2	K562	blood:
3	chr12:104020008..104020914-chr12:104271652..104272393,3	MCF-7	breast:
4	chr12:104271475..104272300-chr12:104502718..104503322,2	K562	blood:
5	chr12:104270364..104272827-chr12:104323882..104326173,2	K562	blood:
6	chr12:104271327..104273911-chr12:104324205..104326173,2	K562	blood:
7	chr12:104266210..104269616-chr12:104269671..104272994,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12426161	1.00[EUR][1000 genomes]
rs12426183	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12426202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426220	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12582800	1.00[EUR][1000 genomes]
rs17180749	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17795947	0.90[EUR][1000 genomes]
rs35193500	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4135065	1.00[AFR][1000 genomes]
rs55780086	1.00[AFR][1000 genomes]
rs55919036	1.00[EUR][1000 genomes]
rs728167	1.00[EUR][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
2	chr12:104270000-104272800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:104271200-104272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:104271400-104272200	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:104271400-104272200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:104271400-104272600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:104271600-104274400	Enhancers	GM12878-XiMat	blood
8	chr12:104271800-104272200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:104271800-104272200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:104271800-104272200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:104271800-104272200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:104271800-104272200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:104271800-104272200	Enhancers	Stomach Mucosa	stomach
14	chr12:104271800-104272400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:104271800-104272400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:104271800-104272400	Enhancers	Dnd41	blood
17	chr12:104271800-104272600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:104271800-104272600	Enhancers	Fetal Thymus	thymus
19	chr12:104271800-104274000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:104271800-104275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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