Variant report

Variant	rs62149270
Chromosome Location	chr2:100576398-100576399
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	0.88[EUR][1000 genomes]
rs10183465	0.89[EUR][1000 genomes]
rs10187195	0.89[EUR][1000 genomes]
rs10189707	0.88[EUR][1000 genomes]
rs10198187	0.89[EUR][1000 genomes]
rs10209198	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11887136	0.88[EUR][1000 genomes]
rs11897706	0.85[EUR][1000 genomes]
rs13382597	0.88[EUR][1000 genomes]
rs13383014	0.89[EUR][1000 genomes]
rs13393937	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13405987	0.88[EUR][1000 genomes]
rs13410695	0.89[EUR][1000 genomes]
rs13410884	0.90[EUR][1000 genomes]
rs13413309	0.86[EUR][1000 genomes]
rs13416574	0.88[EUR][1000 genomes]
rs1574207	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17352514	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17436955	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17436983	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17437101	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2001722	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4129805	0.88[EUR][1000 genomes]
rs4485586	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4632399	0.80[EUR][1000 genomes]
rs4641993	0.85[EUR][1000 genomes]
rs56332326	0.88[EUR][1000 genomes]
rs57360658	0.84[EUR][1000 genomes]
rs58270548	0.92[EUR][1000 genomes]
rs62147652	0.94[EUR][1000 genomes]
rs62147658	0.96[EUR][1000 genomes]
rs62147659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149262	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149263	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62149268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149271	0.88[EUR][1000 genomes]
rs62149272	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149296	0.88[EUR][1000 genomes]
rs62149297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149298	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149299	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149301	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62149302	0.88[EUR][1000 genomes]
rs62149303	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62149304	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62149305	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149307	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149310	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62149311	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62149314	0.82[EUR][1000 genomes]
rs6719214	0.86[EUR][1000 genomes]
rs72819146	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72819147	0.88[EUR][1000 genomes]
rs72819148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72819149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72819157	0.89[EUR][1000 genomes]
rs7425132	0.86[EUR][1000 genomes]
rs7576469	0.89[EUR][1000 genomes]
rs7577040	0.84[EUR][1000 genomes]
rs9308831	0.99[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100547600-100577200	Weak transcription	Thymus	Thymus
2	chr2:100550800-100577000	Weak transcription	Spleen	Spleen
3	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:100559800-100577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:100560600-100577000	Weak transcription	Right Atrium	heart
6	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:100564800-100577000	Weak transcription	Ovary	ovary
8	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:100567800-100577200	Weak transcription	Fetal Thymus	thymus
10	chr2:100569600-100584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100570600-100577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100570600-100598400	Weak transcription	Dnd41	blood
13	chr2:100573000-100577200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:100573400-100578400	Enhancers	Fetal Brain Male	brain
15	chr2:100573800-100599600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:100574000-100576400	Weak transcription	Fetal Heart	heart
17	chr2:100574000-100578000	Strong transcription	Primary B cells from cord blood	blood
18	chr2:100574400-100577000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:100574400-100591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:100574600-100577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:100574800-100577000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:100574800-100577400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:100574800-100583800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:100574800-100584000	Weak transcription	Primary T cells from cord blood	blood
25	chr2:100575200-100578400	Enhancers	Fetal Brain Female	brain
26	chr2:100575600-100576600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:100575600-100577200	Weak transcription	Lung	lung
28	chr2:100576000-100577000	Weak transcription	Gastric	stomach
29	chr2:100576200-100576600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:100576200-100577000	Enhancers	Fetal Lung	lung
31	chr2:100576200-100578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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