Variant report

Variant	rs72700359
Chromosome Location	chr9:8689636-8689637
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]
rs10122379	1.00[EUR][1000 genomes]
rs16928280	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28420206	0.91[AMR][1000 genomes]
rs56367101	1.00[EUR][1000 genomes]
rs72700375	1.00[EUR][1000 genomes]
rs72700377	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8679800-8696400	Weak transcription	Ovary	ovary
2	chr9:8680000-8693000	Weak transcription	Fetal Brain Female	brain
3	chr9:8680000-8694800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:8682000-8694800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:8683000-8706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:8683400-8696000	Weak transcription	Fetal Lung	lung
7	chr9:8683600-8693000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:8684200-8693000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:8685200-8691000	Weak transcription	Brain Angular Gyrus	brain
10	chr9:8685600-8691000	Weak transcription	Brain Substantia Nigra	brain
11	chr9:8686200-8691000	Weak transcription	Brain Anterior Caudate	brain
12	chr9:8686400-8693600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:8686600-8691200	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8689000-8690400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:8689200-8690000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr9:8689200-8690000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr9:8689200-8690400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:8689400-8689800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr9:8689600-8690000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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