Variant report

Variant	rs73964378
Chromosome Location	chr2:100570004-100570005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10199263	1.00[EUR][1000 genomes]
rs11883471	1.00[EUR][1000 genomes]
rs11900758	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023314	1.00[EUR][1000 genomes]
rs34506074	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55983621	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59644088	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59824534	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707538	0.90[EUR][1000 genomes]
rs6758652	0.91[EUR][1000 genomes]
rs73964368	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964370	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73964371	0.90[EUR][1000 genomes]
rs73964373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964375	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964380	1.00[EUR][1000 genomes]
rs73964383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964385	1.00[EUR][1000 genomes]
rs73964387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73964391	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964395	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964396	1.00[EUR][1000 genomes]
rs73964397	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964401	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606572	0.87[AMR][1000 genomes];1.00[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100540200-100572600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:100541800-100575000	Weak transcription	Brain Germinal Matrix	brain
3	chr2:100545600-100572600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:100547600-100577200	Weak transcription	Thymus	Thymus
5	chr2:100550800-100577000	Weak transcription	Spleen	Spleen
6	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:100553600-100573200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:100553600-100573400	Weak transcription	Fetal Brain Female	brain
9	chr2:100558800-100576200	Weak transcription	Fetal Lung	lung
10	chr2:100559800-100577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:100560600-100577000	Weak transcription	Right Atrium	heart
12	chr2:100561200-100572200	Weak transcription	Gastric	stomach
13	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:100564200-100570800	Strong transcription	Primary B cells from cord blood	blood
15	chr2:100564800-100570200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:100564800-100577000	Weak transcription	Ovary	ovary
17	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:100567200-100571000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:100567800-100577200	Weak transcription	Fetal Thymus	thymus
20	chr2:100568000-100573400	Weak transcription	Fetal Brain Male	brain
21	chr2:100568600-100570400	Strong transcription	Primary T cells from cord blood	blood
22	chr2:100568800-100570400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:100569200-100570600	Strong transcription	Dnd41	blood
24	chr2:100569600-100584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:100569800-100573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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