Variant report

Variant	rs62147621
Chromosome Location	chr2:100493482-100493483
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10460488	0.86[EUR][1000 genomes]
rs13405175	0.88[EUR][1000 genomes]
rs13419977	0.86[EUR][1000 genomes]
rs13433082	0.86[EUR][1000 genomes]
rs17023084	0.86[EUR][1000 genomes]
rs17023253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023254	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351403	0.85[AMR][1000 genomes]
rs17351500	1.00[AMR][1000 genomes]
rs17351577	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17352234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436026	1.00[AMR][1000 genomes]
rs17436127	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436511	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17436594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436705	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17716597	0.85[AMR][1000 genomes]
rs34454377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147569	0.91[EUR][1000 genomes]
rs62147614	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147617	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147618	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62147648	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147649	0.91[EUR][1000 genomes]
rs62150080	1.00[AMR][1000 genomes]
rs62150082	1.00[AMR][1000 genomes]
rs62150083	1.00[AMR][1000 genomes]
rs62150103	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150104	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150105	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150106	0.85[EUR][1000 genomes]
rs62150108	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150110	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62150111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62150114	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62150116	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62156490	0.85[AMR][1000 genomes]
rs62156491	0.85[AMR][1000 genomes]
rs62156492	0.85[AMR][1000 genomes]
rs62156493	0.85[AMR][1000 genomes]
rs62156494	0.85[AMR][1000 genomes]
rs62156495	0.85[AMR][1000 genomes]
rs62156496	0.85[AMR][1000 genomes]
rs62156498	0.85[AMR][1000 genomes]
rs62156500	0.85[AMR][1000 genomes]
rs6711546	0.88[EUR][1000 genomes]
rs6755935	0.86[EUR][1000 genomes]
rs6761899	0.86[EUR][1000 genomes]
rs940459	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100443800-100496800	Weak transcription	Ovary	ovary
2	chr2:100481800-100494400	Weak transcription	Fetal Kidney	kidney
3	chr2:100482000-100496200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:100483000-100498400	Weak transcription	Aorta	Aorta
5	chr2:100483000-100507200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100484400-100493800	Weak transcription	NH-A	brain
7	chr2:100484600-100498400	Weak transcription	Left Ventricle	heart
8	chr2:100485000-100494400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:100485200-100495400	Weak transcription	Fetal Stomach	stomach
10	chr2:100485400-100494200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100485600-100494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:100486800-100496600	Weak transcription	Small Intestine	intestine
13	chr2:100487000-100496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100487400-100493600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:100489600-100493800	Strong transcription	Primary B cells from cord blood	blood
16	chr2:100491400-100493600	Enhancers	Fetal Brain Male	brain
17	chr2:100491800-100493800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:100491800-100497000	Weak transcription	Right Atrium	heart
19	chr2:100492000-100494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:100492200-100494400	Weak transcription	Fetal Heart	heart
21	chr2:100492400-100494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:100492400-100494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:100492400-100496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:100492800-100495600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:100492800-100496800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:100492800-100498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:100493000-100494400	Weak transcription	Fetal Lung	lung
28	chr2:100493000-100494600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:100493000-100495000	Enhancers	Fetal Brain Female	brain
30	chr2:100493200-100494400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:100493200-100495200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:100493400-100495600	Enhancers	Primary monocytes fromperipheralblood	blood

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