Variant report

Variant	rs72703481
Chromosome Location	chr9:21591337-21591338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:21559603..21561116-chr9:21590002..21592420,2	MCF-7	breast:
2	chr1:160231834..160232484-chr9:21591140..21591940,2	Hela-S3	cervix:
3	chr6:31125893..31126847-chr9:21590881..21591539,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000171889	Chromatin interaction
ENSG00000204536	Chromatin interaction
ENSG00000137310	Chromatin interaction
ENSG00000132716	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10965067	0.84[EUR][1000 genomes]
rs10965068	0.96[EUR][1000 genomes]
rs10965069	0.84[EUR][1000 genomes]
rs10965073	0.84[EUR][1000 genomes]
rs7026552	0.84[EUR][1000 genomes]
rs72703473	0.81[EUR][1000 genomes]
rs72703475	0.84[EUR][1000 genomes]
rs998188	0.86[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	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
2	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1015623	chr9:21579110-21694039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21575800-21592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:21580000-21594800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:21583200-21591400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:21589200-21591400	Flanking Active TSS	NH-A	brain
5	chr9:21589400-21591600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:21589400-21592200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr9:21589600-21591400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:21589600-21593000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:21590000-21591400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:21590000-21591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:21590000-21592000	Active TSS	A549	lung
12	chr9:21590400-21591800	Active TSS	HMEC	breast
13	chr9:21590400-21592400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:21590400-21592400	Flanking Active TSS	Osteobl	bone
15	chr9:21590600-21591400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:21590600-21592000	Flanking Active TSS	HUVEC	blood vessel
17	chr9:21590800-21591400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:21590800-21591600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:21590800-21591800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr9:21590800-21591800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:21590800-21592600	Enhancers	HSMM	muscle
22	chr9:21591000-21591400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:21591000-21591400	Enhancers	NHDF-Ad	bronchial
24	chr9:21591000-21591400	Active TSS	NHEK	skin
25	chr9:21591000-21591400	Active TSS	NHLF	lung
26	chr9:21591200-21591400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:21591200-21591400	Flanking Active TSS	HSMMtube	muscle
28	chr9:21591200-21591800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:21591200-21592200	Flanking Active TSS	Hela-S3	cervix
30	chr9:21591200-21592400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:21591200-21592600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:21591200-21593600	Enhancers	HUES48 Cell Line	embryonic stem cell

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