Variant report

Variant	rs12002219
Chromosome Location	chr9:8752202-8752203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56052642	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56253901	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60115266	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][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	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
4	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
5	nsv892236	chr9:8745520-8870553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8750000-8760000	Weak transcription	Aorta	Aorta
2	chr9:8750400-8752600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8750400-8752600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:8750400-8752800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:8750400-8752800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:8750400-8752800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:8750400-8753000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:8750400-8753000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:8750400-8753200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:8750400-8753600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:8750600-8752800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:8750600-8752800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:8750600-8753400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:8751000-8752400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:8751000-8757800	Weak transcription	Fetal Brain Male	brain
16	chr9:8751200-8758000	Weak transcription	Brain Substantia Nigra	brain
17	chr9:8751200-8764400	Weak transcription	Fetal Stomach	stomach
18	chr9:8751400-8752800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:8751400-8752800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:8751400-8754800	Weak transcription	Brain Germinal Matrix	brain
21	chr9:8751600-8752800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:8751600-8752800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:8751800-8752800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:8752000-8752800	Enhancers	Ovary	ovary
25	chr9:8752200-8752400	Enhancers	Right Ventricle	heart
26	chr9:8752200-8754400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:8752200-8755800	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:8752200-8757800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:8752200-8759800	Weak transcription	Brain Anterior Caudate	brain
30	chr9:8752200-8760600	Weak transcription	Brain Angular Gyrus	brain
31	chr9:8752200-8760800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:8752200-8776600	Weak transcription	Fetal Muscle Trunk	muscle

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