Variant report

Variant	rs72723254
Chromosome Location	chr9:72501264-72501265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:72500927-72501334	H1-neurons	neurons:	n/a	n/a
2	MAX	chr9:72501187-72501329	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72373598..72376289-chr9:72500894..72503778,2	K562	blood:

Variant related genes	Relation type
RN7SL570P	TF binding region
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72709183	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv471310	chr9:72479046-72508302	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv614580	chr9:72479046-72508302	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv466416	chr9:72479046-72513240	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv614581	chr9:72479046-72513240	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv893439	chr9:72500956-72568962	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:72498400-72506800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:72499200-72501600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:72499200-72501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:72499200-72502200	Enhancers	HMEC	breast
5	chr9:72499400-72505400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:72499800-72501600	Enhancers	Hela-S3	cervix
7	chr9:72499800-72501600	Enhancers	HUVEC	blood vessel
8	chr9:72499800-72501600	Enhancers	NHEK	skin
9	chr9:72500400-72501600	Enhancers	Brain Angular Gyrus	brain
10	chr9:72500600-72501400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:72500600-72501400	Enhancers	Fetal Heart	heart
12	chr9:72500600-72501600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:72500600-72508000	Weak transcription	Right Ventricle	heart
14	chr9:72500800-72509400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:72500800-72512800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:72501000-72501400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr9:72501000-72501400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr9:72501000-72501400	Enhancers	A549	lung
19	chr9:72501000-72509400	Weak transcription	Osteobl	bone
20	chr9:72501200-72501600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:72501200-72506600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:72501200-72507200	Weak transcription	Psoas Muscle	Psoas
23	chr9:72501200-72508200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:72501200-72509600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:72501200-72512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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