Variant report

Variant	rs55716280
Chromosome Location	chr12:123297902-123297903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123296314..123299093-chr12:123319595..123321545,2	K562	blood:
2	chr12:123293432..123295111-chr12:123296025..123298084,2	K562	blood:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1619142	1.00[EUR][1000 genomes]
rs1671681	1.00[EUR][1000 genomes]
rs1671682	1.00[EUR][1000 genomes]
rs1671683	1.00[EUR][1000 genomes]
rs1696316	1.00[EUR][1000 genomes]
rs1696322	1.00[EUR][1000 genomes]
rs1696325	1.00[EUR][1000 genomes]
rs1798560	1.00[EUR][1000 genomes]
rs1798561	1.00[EUR][1000 genomes]
rs1798565	1.00[EUR][1000 genomes]
rs1798569	1.00[EUR][1000 genomes]
rs2456151	1.00[EUR][1000 genomes]
rs2649899	1.00[EUR][1000 genomes]
rs2656814	0.96[EUR][1000 genomes]
rs55650312	0.88[EUR][1000 genomes]
rs56260598	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56294931	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59058900	0.96[EUR][1000 genomes]
rs59769449	0.96[EUR][1000 genomes]
rs73415582	1.00[EUR][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123286600-123303600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:123289200-123303800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:123290600-123310400	Weak transcription	Aorta	Aorta
10	chr12:123291800-123304800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:123296400-123310200	Weak transcription	Fetal Intestine Small	intestine
12	chr12:123297000-123302200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:123297400-123298000	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:123297400-123298400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:123297600-123298000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr12:123297600-123298200	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr12:123297600-123298200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:123297600-123298600	Enhancers	GM12878-XiMat	blood
19	chr12:123297800-123298000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:123297800-123298000	Enhancers	Fetal Brain Female	brain
21	chr12:123297800-123298200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:123297800-123298200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:123297800-123298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:123297800-123298200	Active TSS	Pancreatic Islets	Pancreatic Islet

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