Variant report

Variant	rs11887597
Chromosome Location	chr2:100576807-100576808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10177463	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13023088	0.81[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11887597	ASTL	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100547600-100577200	Weak transcription	Thymus	Thymus
2	chr2:100550800-100577000	Weak transcription	Spleen	Spleen
3	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:100559800-100577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:100560600-100577000	Weak transcription	Right Atrium	heart
6	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:100564800-100577000	Weak transcription	Ovary	ovary
8	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:100567800-100577200	Weak transcription	Fetal Thymus	thymus
10	chr2:100569600-100584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:100570600-100577200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100570600-100598400	Weak transcription	Dnd41	blood
13	chr2:100573000-100577200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:100573400-100578400	Enhancers	Fetal Brain Male	brain
15	chr2:100573800-100599600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:100574000-100578000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:100574400-100577000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:100574400-100591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:100574600-100577200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:100574800-100577000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:100574800-100577400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:100574800-100583800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:100574800-100584000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:100575200-100578400	Enhancers	Fetal Brain Female	brain
25	chr2:100575600-100577200	Weak transcription	Lung	lung
26	chr2:100576000-100577000	Weak transcription	Gastric	stomach
27	chr2:100576200-100577000	Enhancers	Fetal Lung	lung
28	chr2:100576200-100578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:100576400-100578800	Enhancers	Fetal Heart	heart
30	chr2:100576600-100577800	Enhancers	Brain Germinal Matrix	brain
31	chr2:100576600-100578000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:100576800-100577400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:100576800-100577800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:100576800-100577800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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