Variant report

Variant	rs56332326
Chromosome Location	chr2:100573355-100573356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10165066	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10183465	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10187195	0.99[EUR][1000 genomes]
rs10189707	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10198187	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10209198	0.89[EUR][1000 genomes]
rs11887136	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11897706	0.97[EUR][1000 genomes]
rs13382597	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13383014	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13385193	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13393937	0.86[EUR][1000 genomes]
rs13405987	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13410695	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13410884	0.96[EUR][1000 genomes]
rs13413309	0.98[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs13416574	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1574207	0.85[EUR][1000 genomes]
rs17023362	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17023378	0.86[EUR][1000 genomes]
rs17023391	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17023393	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17436955	0.87[EUR][1000 genomes]
rs2001722	0.85[EUR][1000 genomes]
rs2309775	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4129805	0.98[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4449188	0.83[EUR][1000 genomes]
rs4641993	0.97[EUR][1000 genomes]
rs55649403	0.84[EUR][1000 genomes]
rs55681051	0.84[EUR][1000 genomes]
rs57360658	0.96[EUR][1000 genomes]
rs58270548	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62147652	0.85[EUR][1000 genomes]
rs62147658	0.87[EUR][1000 genomes]
rs62147659	0.89[EUR][1000 genomes]
rs62149260	0.89[EUR][1000 genomes]
rs62149262	0.89[EUR][1000 genomes]
rs62149263	0.89[EUR][1000 genomes]
rs62149264	0.83[EUR][1000 genomes]
rs62149268	0.89[EUR][1000 genomes]
rs62149270	0.88[EUR][1000 genomes]
rs62149271	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149272	0.88[EUR][1000 genomes]
rs62149296	0.98[EUR][1000 genomes]
rs62149297	0.88[EUR][1000 genomes]
rs62149298	0.87[EUR][1000 genomes]
rs62149299	0.87[EUR][1000 genomes]
rs62149301	0.87[EUR][1000 genomes]
rs62149302	0.98[EUR][1000 genomes]
rs6736239	0.84[EUR][1000 genomes]
rs72819146	0.85[EUR][1000 genomes]
rs72819147	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72819148	0.89[EUR][1000 genomes]
rs72819149	0.89[EUR][1000 genomes]
rs72819157	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72819165	0.84[EUR][1000 genomes]
rs7425132	0.98[EUR][1000 genomes]
rs7573669	0.85[EUR][1000 genomes]
rs7576469	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7577040	0.96[EUR][1000 genomes]
rs9308831	0.87[EUR][1000 genomes]
rs9308832	0.84[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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 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	chr2:100541800-100575000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:100547600-100577200	Weak transcription	Thymus	Thymus
3	chr2:100550800-100577000	Weak transcription	Spleen	Spleen
4	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:100553600-100573400	Weak transcription	Fetal Brain Female	brain
6	chr2:100558800-100576200	Weak transcription	Fetal Lung	lung
7	chr2:100559800-100577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:100560600-100577000	Weak transcription	Right Atrium	heart
9	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:100564800-100577000	Weak transcription	Ovary	ovary
11	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:100567800-100577200	Weak transcription	Fetal Thymus	thymus
13	chr2:100568000-100573400	Weak transcription	Fetal Brain Male	brain
14	chr2:100569600-100584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:100569800-100573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:100570400-100573600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:100570400-100574200	Weak transcription	Primary T cells from cord blood	blood
18	chr2:100570600-100577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:100570600-100598400	Weak transcription	Dnd41	blood
20	chr2:100572600-100573800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr2:100572600-100573800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr2:100572600-100574000	Genic enhancers	Primary B cells from cord blood	blood
23	chr2:100573000-100577200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:100573200-100574800	Genic enhancers	Primary B cells from peripheral blood	blood

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