Variant report

Variant	rs12379617
Chromosome Location	chr9:14435743-14435744
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12378036	1.00[AFR][1000 genomes]
rs72700578	1.00[AFR][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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892600	chr9:14370172-14469146	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 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	chr9:14429200-14436000	Weak transcription	Psoas Muscle	Psoas
2	chr9:14432200-14437400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:14433400-14436600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr9:14433600-14437400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:14433800-14436200	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:14433800-14436600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:14433800-14437000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:14433800-14437200	Weak transcription	Brain Substantia Nigra	brain
9	chr9:14433800-14437200	Weak transcription	Fetal Kidney	kidney
10	chr9:14433800-14437600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:14434000-14436000	Weak transcription	Aorta	Aorta
12	chr9:14434000-14436000	Weak transcription	Right Atrium	heart
13	chr9:14434000-14436800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:14434000-14437000	Weak transcription	Fetal Brain Male	brain
15	chr9:14434000-14437400	Weak transcription	Fetal Stomach	stomach
16	chr9:14434000-14437600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:14434200-14437000	Weak transcription	Brain Germinal Matrix	brain
18	chr9:14434400-14437000	Weak transcription	Fetal Lung	lung
19	chr9:14434400-14437400	Weak transcription	Brain Anterior Caudate	brain
20	chr9:14434400-14437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:14434600-14437000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:14434600-14437600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:14434600-14437800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:14434600-14437800	Weak transcription	K562	blood
25	chr9:14434800-14436400	Enhancers	Left Ventricle	heart
26	chr9:14434800-14436400	Weak transcription	HUVEC	blood vessel
27	chr9:14435000-14436400	Enhancers	Fetal Muscle Leg	muscle
28	chr9:14435000-14436400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr9:14435000-14437200	Weak transcription	Fetal Brain Female	brain
30	chr9:14435200-14436000	Weak transcription	Right Ventricle	heart
31	chr9:14435400-14436000	Enhancers	Fetal Heart	heart

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