Variant report

Variant	rs62147618
Chromosome Location	chr2:100490832-100490833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10460488	0.80[EUR][1000 genomes]
rs13405175	0.83[EUR][1000 genomes]
rs13419977	0.80[EUR][1000 genomes]
rs13433082	0.80[EUR][1000 genomes]
rs17023084	0.80[EUR][1000 genomes]
rs17023253	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17023254	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes]
rs17351577	0.83[EUR][1000 genomes]
rs17352234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes]
rs17436127	0.83[EUR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34454377	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147569	0.86[EUR][1000 genomes]
rs62147614	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147649	0.85[EUR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes]
rs62150103	0.83[EUR][1000 genomes]
rs62150104	0.83[EUR][1000 genomes]
rs62150105	0.83[EUR][1000 genomes]
rs62150108	0.83[EUR][1000 genomes]
rs62150110	0.80[EUR][1000 genomes]
rs62150111	0.80[EUR][1000 genomes]
rs62150114	0.83[EUR][1000 genomes]
rs62150116	0.83[EUR][1000 genomes]
rs6711546	0.83[EUR][1000 genomes]
rs6755935	0.80[EUR][1000 genomes]
rs6761899	0.80[EUR][1000 genomes]
rs940459	0.85[AMR][1000 genomes];0.83[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:24 , 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	chr2:100482000-100491600	Weak transcription	Right Atrium	heart
4	chr2:100482000-100496200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:100483000-100498400	Weak transcription	Aorta	Aorta
6	chr2:100483000-100507200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:100484400-100493800	Weak transcription	NH-A	brain
8	chr2:100484600-100498400	Weak transcription	Left Ventricle	heart
9	chr2:100485000-100491600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:100485000-100494400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:100485200-100495400	Weak transcription	Fetal Stomach	stomach
12	chr2:100485400-100492200	Weak transcription	Fetal Lung	lung
13	chr2:100485400-100494200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:100485600-100491600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:100485600-100494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:100486000-100492600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:100486800-100496600	Weak transcription	Small Intestine	intestine
18	chr2:100487000-100491600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:100487000-100491600	Weak transcription	Fetal Brain Female	brain
20	chr2:100487000-100496000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:100487200-100493200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100487400-100493600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:100489600-100493800	Strong transcription	Primary B cells from cord blood	blood
24	chr2:100490800-100491000	Enhancers	Fetal Brain Male	brain

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