Variant report

Variant	rs72700384
Chromosome Location	chr9:8702947-8702948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1434266	1.00[AFR][1000 genomes]
rs17653604	0.88[EUR][1000 genomes]
rs2137346	0.86[AFR][1000 genomes]
rs72700357	1.00[AFR][1000 genomes]
rs72700370	0.81[AMR][1000 genomes]
rs72700371	1.00[AFR][1000 genomes]
rs72700391	0.81[EUR][1000 genomes]
rs72700393	0.92[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	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
5	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
6	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8683000-8706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:8693400-8706400	Weak transcription	Fetal Brain Male	brain
3	chr9:8693800-8703400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:8693800-8706600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:8695200-8704200	Weak transcription	Brain Substantia Nigra	brain
6	chr9:8695200-8711600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:8695400-8706800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:8696000-8703600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:8696200-8706600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:8696800-8706000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:8697000-8704200	Weak transcription	Fetal Kidney	kidney
12	chr9:8698800-8706800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:8699400-8705800	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8699600-8717800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr9:8700400-8703600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:8700600-8706000	Weak transcription	Brain Anterior Caudate	brain
17	chr9:8700600-8706400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:8700600-8706400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:8700800-8703400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:8700800-8703400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:8700800-8703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:8700800-8704000	Weak transcription	Brain Angular Gyrus	brain
23	chr9:8700800-8718000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:8701600-8704400	Enhancers	Fetal Lung	lung
25	chr9:8702800-8703400	Weak transcription	Fetal Stomach	stomach

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