Variant report

Variant	rs7139201
Chromosome Location	chr12:123924485-123924486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28470730	1.00[EUR][1000 genomes]
rs7134935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73412214	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:123921800-123925400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:123921800-123928600	Weak transcription	HepG2	liver
3	chr12:123921800-123928800	Weak transcription	Right Atrium	heart
4	chr12:123921800-123929600	Weak transcription	Spleen	Spleen
5	chr12:123921800-123930200	Weak transcription	Pancreas	Pancrea
6	chr12:123921800-123930400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:123922000-123926400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:123922200-123926400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:123922200-123927200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:123922400-123927400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:123922400-123928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:123922600-123925200	Weak transcription	GM12878-XiMat	blood
13	chr12:123922600-123926200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:123922600-123926400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:123922600-123927200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123922600-123928400	Weak transcription	Lung	lung
17	chr12:123922600-123929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:123922800-123926200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:123922800-123926200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:123922800-123926600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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