Variant report

Variant	rs72700402
Chromosome Location	chr9:8720479-8720480
allele	G/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:7)

rs_ID	r²[population]
rs55885541	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56261457	1.00[AMR][1000 genomes]
rs72696692	1.00[AMR][1000 genomes]
rs72700395	1.00[AMR][1000 genomes]
rs72700396	1.00[AMR][1000 genomes]
rs72702304	1.00[EUR][1000 genomes]
rs72702307	1.00[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	nsv6474	chr9:8706602-8751414	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8704400-8731800	Weak transcription	Fetal Lung	lung
2	chr9:8710600-8733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:8715400-8723000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:8716200-8732600	Weak transcription	Fetal Brain Female	brain
5	chr9:8717000-8721000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:8717200-8721000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:8717800-8723400	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:8718000-8721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:8718000-8724600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:8718400-8733600	Weak transcription	Psoas Muscle	Psoas
11	chr9:8718600-8721200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr9:8718800-8721000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:8718800-8724400	Weak transcription	Ovary	ovary
14	chr9:8718800-8730800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:8718800-8732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr9:8719000-8720600	Enhancers	Brain Anterior Caudate	brain
17	chr9:8719000-8720800	Weak transcription	Aorta	Aorta
18	chr9:8719000-8723800	Weak transcription	Brain Angular Gyrus	brain
19	chr9:8719000-8725600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:8719000-8730800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:8719000-8733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:8719000-8733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:8719200-8722600	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:8719400-8725600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:8719400-8727000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:8719600-8721400	Enhancers	Fetal Thymus	thymus
27	chr9:8719600-8723200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:8720200-8720600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:8720200-8720600	Enhancers	Brain Substantia Nigra	brain
30	chr9:8720200-8720600	Flanking Active TSS	Dnd41	blood
31	chr9:8720200-8721000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:8720200-8724400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:8720400-8722000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:8720400-8723000	Weak transcription	Brain Inferior Temporal Lobe	brain

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