Variant report

Variant	rs55983621
Chromosome Location	chr2:100557863-100557864
allele	G/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	1.00[EUR][1000 genomes]
rs17023314	1.00[EUR][1000 genomes]
rs34506074	1.00[EUR][1000 genomes]
rs59644088	1.00[EUR][1000 genomes]
rs59824534	1.00[EUR][1000 genomes]
rs6707538	0.90[EUR][1000 genomes]
rs6758652	0.91[EUR][1000 genomes]
rs73964368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964370	1.00[EUR][1000 genomes]
rs73964371	0.90[EUR][1000 genomes]
rs73964373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964374	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964375	1.00[EUR][1000 genomes]
rs73964377	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964378	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964380	1.00[EUR][1000 genomes]
rs73964383	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964385	1.00[EUR][1000 genomes]
rs73964387	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964389	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73964391	1.00[EUR][1000 genomes]
rs73964394	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964395	1.00[EUR][1000 genomes]
rs73964396	1.00[EUR][1000 genomes]
rs73964397	1.00[EUR][1000 genomes]
rs73964401	1.00[EUR][1000 genomes]
rs7606572	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100523400-100558200	Weak transcription	Fetal Lung	lung
2	chr2:100540200-100572600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:100541800-100575000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:100545600-100572600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:100546000-100559400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:100547600-100569200	Weak transcription	Fetal Stomach	stomach
7	chr2:100547600-100577200	Weak transcription	Thymus	Thymus
8	chr2:100549000-100562200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:100550800-100562200	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100550800-100577000	Weak transcription	Spleen	Spleen
11	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:100551200-100563200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:100551400-100563600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:100553400-100569800	Weak transcription	Lung	lung
15	chr2:100553600-100573200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:100553600-100573400	Weak transcription	Fetal Brain Female	brain
17	chr2:100554600-100558600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr2:100555000-100566000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:100556600-100560000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:100557200-100558000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:100557200-100558400	Enhancers	Osteobl	bone
22	chr2:100557200-100559000	Enhancers	NH-A	brain
23	chr2:100557200-100562600	Enhancers	Fetal Heart	heart
24	chr2:100557400-100558800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:100557600-100558400	Strong transcription	Dnd41	blood
26	chr2:100557600-100558800	Strong transcription	Primary T cells from cord blood	blood
27	chr2:100557600-100559600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:100557600-100560600	Weak transcription	Gastric	stomach
29	chr2:100557600-100560600	Weak transcription	Left Ventricle	heart
30	chr2:100557600-100564200	Weak transcription	Ovary	ovary
31	chr2:100557800-100558200	Enhancers	Liver	Liver
32	chr2:100557800-100558400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:100557800-100559200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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