Variant report

Variant	rs72723219
Chromosome Location	chr9:72444020-72444021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72443896..72446419-chr9:72448241..72450702,2	MCF-7	breast:
2	chr9:72433968..72436412-chr9:72443051..72445385,2	K562	blood:
3	chr9:72440634..72442865-chr9:72442939..72445478,2	K562	blood:
4	chr9:72436123..72439031-chr9:72442805..72445416,2	K562	blood:

Variant related genes	Relation type
ENSG00000225626	Chromatin interaction
ENSG00000204711	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10521434	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140470	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337927	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347511	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1411408	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17439752	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517599	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17518030	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518268	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4366141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029206	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723208	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72723215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723223	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866489	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72437400-72444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:72439000-72444400	Weak transcription	K562	blood
3	chr9:72440000-72451400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:72440200-72444200	Enhancers	Primary T cells from cord blood	blood
5	chr9:72440600-72444400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:72440600-72457600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:72441000-72444800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:72441400-72444600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:72441400-72446400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:72441600-72467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:72441800-72446400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:72441800-72446400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:72442600-72446400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:72442600-72446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:72442600-72446400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:72442800-72444200	Weak transcription	Esophagus	oesophagus
17	chr9:72442800-72457600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:72442800-72480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:72443600-72444800	Weak transcription	Fetal Thymus	thymus
20	chr9:72443800-72444600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr9:72443800-72444600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:72444000-72444200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr9:72444000-72444200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr9:72444000-72444200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:72444000-72444600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:72444000-72444800	Enhancers	Osteobl	bone
27	chr9:72444000-72445400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr9:72444000-72445800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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