Variant report

Variant	rs72700313
Chromosome Location	chr9:8647339-8647340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs56032582	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56055933	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56236902	0.93[ASN][1000 genomes]
rs56272971	0.93[ASN][1000 genomes]
rs72698251	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72698260	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72698261	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698266	0.93[ASN][1000 genomes]
rs72698268	0.93[ASN][1000 genomes]
rs72698270	0.93[ASN][1000 genomes]
rs72698271	0.93[ASN][1000 genomes]
rs72698274	0.93[ASN][1000 genomes]
rs72698277	0.93[ASN][1000 genomes]
rs72698280	0.93[ASN][1000 genomes]
rs72698282	0.93[ASN][1000 genomes]
rs72698283	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698285	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698286	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698287	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698288	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698289	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698296	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698299	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72698302	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72700303	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72700310	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72700312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72700317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72700319	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72700327	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7853846	0.81[AMR][1000 genomes]
rs7864086	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv831504	chr9:8496277-8665773	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv892231	chr9:8569186-8659757	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
2	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:8631000-8649800	Weak transcription	Ovary	ovary
7	chr9:8634600-8648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:8638000-8648000	Weak transcription	Fetal Brain Male	brain
9	chr9:8642600-8647800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:8643800-8647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:8644000-8651800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:8644400-8647800	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:8644400-8660400	Weak transcription	Aorta	Aorta
14	chr9:8644600-8651200	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:8644800-8647800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:8645000-8647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:8645000-8651200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:8645200-8651200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:8646800-8649000	Enhancers	Brain Substantia Nigra	brain
20	chr9:8647000-8647600	Weak transcription	Brain Angular Gyrus	brain

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