Variant report

Variant	rs1471045
Chromosome Location	chr11:106831384-106831385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10789557	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890629	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890630	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11604450	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7948216	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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	nsv531938	chr11:106760733-107156814	Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv1818906	chr11:106786428-106831384	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
3	esv1806517	chr11:106828741-106831970	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1471045	KDELC2	cis	cerebellum	SCAN
rs1471045	MMP12	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106825400-106836200	Weak transcription	Fetal Brain Male	brain
2	chr11:106827200-106832600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:106827400-106832200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:106827400-106832400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:106827400-106832800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:106828200-106831800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:106828400-106831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:106828400-106832400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:106828400-106832600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:106828400-106840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:106828400-106857400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:106828600-106833000	Enhancers	Fetal Lung	lung
13	chr11:106829000-106831600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:106829000-106831600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:106829400-106832600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:106829600-106832000	Enhancers	NHLF	lung
17	chr11:106829600-106833000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:106830000-106832600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:106830200-106831800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:106830200-106832600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:106830200-106832800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:106830400-106831600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:106830400-106831800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:106830400-106832600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:106830400-106833400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:106830400-106841400	Enhancers	Fetal Heart	heart
27	chr11:106830600-106832200	Enhancers	HSMMtube	muscle
28	chr11:106830600-106832600	Enhancers	Fetal Kidney	kidney
29	chr11:106830800-106831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:106830800-106831800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:106830800-106831800	Weak transcription	Left Ventricle	heart
32	chr11:106830800-106833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:106830800-106853600	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:106831000-106831400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:106831000-106831400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:106831000-106831400	Weak transcription	Ovary	ovary
37	chr11:106831000-106832800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:106831200-106832600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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