Variant report

Variant	rs12468183
Chromosome Location	chr2:33724519-33724520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495790	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470632	0.86[ASN][1000 genomes]
rs17013131	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17013132	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17013153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594787	0.84[EUR][1000 genomes]
rs17595807	1.00[AFR][1000 genomes]
rs62147155	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62147157	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62148983	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3457478	chr2:33716912-33727989	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457477	chr2:33717011-33728006	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457479	chr2:33717011-33728006	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv828775	chr2:33717066-33727682	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:33719000-33730200	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:33719200-33725400	Enhancers	Brain Hippocampus Middle	brain
6	chr2:33719400-33725400	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:33719400-33725400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:33719600-33724800	Enhancers	Primary B cells from cord blood	blood
9	chr2:33720000-33725200	Enhancers	Fetal Heart	heart
10	chr2:33721600-33730000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:33723200-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:33723400-33725000	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:33723600-33724600	Enhancers	Right Ventricle	heart
14	chr2:33723600-33724800	Enhancers	Left Ventricle	heart
15	chr2:33723800-33725000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:33723800-33726600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:33724000-33725000	Weak transcription	Brain Substantia Nigra	brain
18	chr2:33724000-33726600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:33724000-33726600	Weak transcription	Spleen	Spleen
20	chr2:33724000-33726600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:33724000-33729200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:33724000-33729400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:33724000-33729600	Weak transcription	Brain Anterior Caudate	brain
24	chr2:33724200-33724600	Enhancers	Right Atrium	heart
25	chr2:33724400-33724600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr2:33724400-33726600	Weak transcription	Lung	lung

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