Variant report

Variant	rs1392523
Chromosome Location	chr9:8395415-8395416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10977081	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10977086	0.86[JPT][hapmap]
rs12005474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12338308	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12352293	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1500335	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1500336	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909756	0.85[JPT][hapmap]
rs2047594	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2047595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133790	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2133791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4146133	0.92[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72691046	0.98[ASN][1000 genomes]
rs72691051	1.00[ASN][1000 genomes]
rs72691052	0.98[ASN][1000 genomes]
rs72691074	0.95[ASN][1000 genomes]
rs7847051	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs969005	0.95[EUR][1000 genomes];1.00[ASN][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	nsv8414	chr9:7827373-8511613	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8339600-8397600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:8361400-8401600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr9:8364800-8401600	Weak transcription	Brain Germinal Matrix	brain
4	chr9:8367200-8399800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:8373000-8402200	Weak transcription	Fetal Kidney	kidney
6	chr9:8376800-8401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8377800-8406400	Weak transcription	Fetal Brain Female	brain
8	chr9:8383600-8405200	Weak transcription	Aorta	Aorta
9	chr9:8385200-8401400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:8387800-8398800	Weak transcription	Ovary	ovary
11	chr9:8388000-8402000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:8389600-8451000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:8393400-8395600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:8393800-8397400	Enhancers	Brain Cingulate Gyrus	brain
15	chr9:8394000-8424400	Weak transcription	Fetal Lung	lung
16	chr9:8394200-8395800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:8394400-8395800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:8394400-8395800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:8394400-8395800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:8394400-8396200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:8394400-8396200	Enhancers	Brain Anterior Caudate	brain
22	chr9:8394400-8397800	Enhancers	Brain Substantia Nigra	brain
23	chr9:8394600-8395800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:8394600-8397200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:8394800-8395600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr9:8394800-8395800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:8394800-8396000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:8394800-8396000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:8394800-8397400	Enhancers	Brain Hippocampus Middle	brain
30	chr9:8395000-8401800	Weak transcription	Brain Angular Gyrus	brain
31	chr9:8395400-8396000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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