Variant report

Variant	rs2053126
Chromosome Location	chr9:8725265-8725266
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10122099	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10815926	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12375677	0.81[EUR][1000 genomes]
rs1368979	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1434260	0.80[EUR][1000 genomes]
rs1473822	0.95[EUR][1000 genomes]
rs1865340	0.95[EUR][1000 genomes]
rs1877447	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4614053	0.89[EUR][1000 genomes]
rs4740959	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62528779	0.80[EUR][1000 genomes]
rs7866681	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7866922	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs906635	0.95[EUR][1000 genomes]
rs906636	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs980404	0.86[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	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv6474	chr9:8706602-8751414	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8704400-8731800	Weak transcription	Fetal Lung	lung
2	chr9:8710600-8733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:8716200-8732600	Weak transcription	Fetal Brain Female	brain
4	chr9:8718400-8733600	Weak transcription	Psoas Muscle	Psoas
5	chr9:8718800-8730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:8718800-8732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:8719000-8725600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:8719000-8730800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:8719000-8733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:8719000-8733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:8719400-8725600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:8719400-8727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:8720600-8731800	Weak transcription	Brain Anterior Caudate	brain
14	chr9:8720600-8732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:8721000-8728800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:8721000-8732200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:8722000-8744600	Weak transcription	Dnd41	blood
18	chr9:8723400-8726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:8723400-8730400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:8723400-8732800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:8723600-8730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:8724400-8726200	Enhancers	Fetal Heart	heart
23	chr9:8724600-8725600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:8724600-8727400	Weak transcription	Fetal Kidney	kidney
25	chr9:8724600-8730800	Weak transcription	Brain Angular Gyrus	brain
26	chr9:8724800-8732400	Weak transcription	Brain Substantia Nigra	brain
27	chr9:8724800-8733400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:8725000-8726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:8725000-8732200	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:8725000-8733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:8725000-8733600	Weak transcription	Ovary	ovary

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