Variant report

Variant	rs62150104
Chromosome Location	chr2:100386614-100386615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100382265..100384877-chr2:100386362..100389420,3	K562	blood:
2	chr2:100380582..100383387-chr2:100384960..100390106,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10460488	0.97[EUR][1000 genomes]
rs11887420	0.82[EUR][1000 genomes]
rs13405175	1.00[EUR][1000 genomes]
rs13419977	0.97[EUR][1000 genomes]
rs13433082	0.97[EUR][1000 genomes]
rs17023084	0.97[EUR][1000 genomes]
rs17023253	0.88[EUR][1000 genomes]
rs17023254	0.88[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17351577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17352234	0.88[EUR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17436127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436705	0.88[EUR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34454377	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147569	0.80[EUR][1000 genomes]
rs62147614	0.88[EUR][1000 genomes]
rs62147617	0.88[EUR][1000 genomes]
rs62147618	0.83[EUR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62147648	0.88[EUR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes]
rs62150103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150106	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62150108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62150111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62150114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62150116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6711546	1.00[EUR][1000 genomes]
rs6755935	0.97[EUR][1000 genomes]
rs6761899	0.97[EUR][1000 genomes]
rs940459	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100394600	Weak transcription	Dnd41	blood
3	chr2:100377800-100386800	Strong transcription	Primary B cells from cord blood	blood
4	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:100383800-100388600	Weak transcription	Ovary	ovary
7	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:100385400-100387200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr2:100385800-100386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:100386000-100387400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:100386200-100390000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr2:100386400-100386800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:100386400-100387200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100386400-100387400	Enhancers	Placenta	Placenta
15	chr2:100386400-100388000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:100386400-100388200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:100386400-100389600	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:100386600-100386800	Enhancers	Right Atrium	heart
19	chr2:100386600-100387200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:100386600-100387400	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:100386600-100388800	Weak transcription	Fetal Kidney	kidney

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