Variant report

Variant	rs12338349
Chromosome Location	chr9:8680955-8680956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10116693	1.00[EUR][1000 genomes]
rs12344045	1.00[EUR][1000 genomes]
rs67852519	0.95[AFR][1000 genomes]
rs73425481	1.00[EUR][1000 genomes]
rs73425487	1.00[EUR][1000 genomes]
rs73425489	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	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
3	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv892232	chr9:8645448-8698875	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv892233	chr9:8645448-8702964	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892234	chr9:8645448-8703733	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8674000-8681000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:8677200-8681000	Enhancers	Fetal Brain Male	brain
3	chr9:8677200-8681600	Enhancers	Brain Hippocampus Middle	brain
4	chr9:8677400-8683400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:8677400-8683800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:8677800-8681400	Enhancers	Brain Substantia Nigra	brain
7	chr9:8678000-8681800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:8678200-8681600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:8678600-8681000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:8679000-8684200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:8679200-8687400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:8679600-8681000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:8679600-8681200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:8679600-8681600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:8679600-8687000	Weak transcription	Aorta	Aorta
16	chr9:8679800-8681000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:8679800-8681000	Enhancers	Fetal Lung	lung
18	chr9:8679800-8681600	Enhancers	Brain Cingulate Gyrus	brain
19	chr9:8679800-8689200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:8679800-8696400	Weak transcription	Ovary	ovary
21	chr9:8680000-8681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr9:8680000-8681000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:8680000-8681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:8680000-8681400	Weak transcription	Brain Anterior Caudate	brain
25	chr9:8680000-8686000	Weak transcription	Brain Germinal Matrix	brain
26	chr9:8680000-8693000	Weak transcription	Fetal Brain Female	brain
27	chr9:8680000-8694800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:8680400-8685200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:8680600-8681200	Enhancers	Brain Angular Gyrus	brain
30	chr9:8680600-8681800	Enhancers	Fetal Heart	heart
31	chr9:8680600-8682200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:8680600-8684000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:8680800-8681200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:8680800-8681200	Enhancers	Fetal Muscle Leg	muscle

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