Variant report

Variant	rs72758535
Chromosome Location	chr9:95528569-95528570
allele	C/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	REST	chr9:95526544-95528605	H1-neurons	neurons:	n/a	chr9:95527657-95527666 chr9:95527496-95527514
2	JUN	chr9:95526720-95528866	K562	blood:	n/a	chr9:95527613-95527622 chr9:95527602-95527611
3	POLR2A	chr9:95528425-95528692	HepG2	liver:	n/a	n/a
4	MAZ	chr9:95526696-95528770	IMR90	lung:	n/a	chr9:95527560-95527569
5	SIN3A	chr9:95528478-95528705	H1-hESC	embryonic stem cell:	n/a	n/a
6	NRF1	chr9:95526838-95528617	SK-N-SH	brain:	n/a	chr9:95527372-95527381
7	RUNX3	chr9:95528298-95528692	GM12878	blood:	n/a	n/a
8	CTCF	chr9:95527118-95528866	A549	lung:	n/a	chr9:95527784-95527797 chr9:95527783-95527804 chr9:95527784-95527797 chr9:95527784-95527793 chr9:95527594-95527603 chr9:95527597-95527610 chr9:95527786-95527796 chr9:95527782-95527798 chr9:95527781-95527799

No.	Distal block	Cell Line	Cell type
1	chr9:95494848..95496493-chr9:95528400..95531111,2	MCF-7	breast:
2	chr9:95527312..95529710-chr9:95541794..95545254,3	K562	blood:
3	chr9:95086140..95089391-chr9:95526124..95530104,3	K562	blood:
4	chr9:95527433..95529305-chr9:95894680..95896592,2	MCF-7	breast:
5	chr9:95527377..95529003-chr9:95820391..95822278,2	K562	blood:
6	chr9:95428069..95433526-chr9:95524054..95531235,7	MCF-7	breast:
7	chr9:95527342..95528787-chr9:95552714..95553684,7	K562	blood:
8	chr9:95430814..95434525-chr9:95525652..95528883,5	K562	blood:
9	chr7:43908068..43910411-chr9:95526104..95528854,2	MCF-7	breast:

Variant related genes	Relation type
BICD2	TF binding region
ENSG00000198000	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000062582	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000188312	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs2277165	0.82[ASN][1000 genomes]
rs41273374	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72756403	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72756424	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72756452	0.82[ASN][1000 genomes]
rs72756455	0.82[ASN][1000 genomes]
rs72756457	0.82[ASN][1000 genomes]
rs72756458	0.82[ASN][1000 genomes]
rs72756459	0.82[ASN][1000 genomes]
rs72756460	0.82[ASN][1000 genomes]
rs72756462	0.82[ASN][1000 genomes]
rs72756464	0.82[ASN][1000 genomes]
rs72756465	0.82[ASN][1000 genomes]
rs72756467	0.82[ASN][1000 genomes]
rs72756468	0.82[ASN][1000 genomes]
rs72756469	0.82[ASN][1000 genomes]
rs72756471	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72756472	0.82[ASN][1000 genomes]
rs72756478	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72756483	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72756486	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72756489	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72756497	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72756498	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72756500	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758504	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758505	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758508	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758510	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758519	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758524	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758525	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758536	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758539	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758540	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758542	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758543	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758544	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72758545	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72758547	1.00[AMR][1000 genomes]
rs72758549	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72758552	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72758554	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95525600-95528600	Active TSS	Fetal Kidney	kidney
2	chr9:95525600-95528600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr9:95526000-95528600	Active TSS	Fetal Lung	lung
4	chr9:95526200-95528600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:95527400-95528600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr9:95527600-95528600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:95527600-95528600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr9:95527600-95528600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:95527800-95528600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:95527800-95528600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr9:95527800-95528600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr9:95527800-95528600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:95527800-95528600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:95527800-95528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:95527800-95528600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:95527800-95528600	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr9:95527800-95528600	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr9:95527800-95528600	Flanking Active TSS	Fetal Brain Male	brain
19	chr9:95527800-95528600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr9:95527800-95528600	Enhancers	Small Intestine	intestine
21	chr9:95527800-95528600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr9:95527800-95528600	Flanking Active TSS	GM12878-XiMat	blood
23	chr9:95527800-95528600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr9:95527800-95528600	Flanking Active TSS	NHEK	skin
25	chr9:95527800-95528600	Flanking Active TSS	NHLF	lung
26	chr9:95527800-95528800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr9:95527800-95528800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:95527800-95528800	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr9:95527800-95528800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr9:95527800-95528800	Enhancers	Spleen	Spleen
31	chr9:95527800-95528800	Flanking Active TSS	Dnd41	blood
32	chr9:95527800-95528800	Flanking Active TSS	Hela-S3	cervix
33	chr9:95528000-95528600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:95528000-95528600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:95528000-95528600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr9:95528000-95528600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr9:95528000-95528600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr9:95528000-95528600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:95528000-95528600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr9:95528000-95528600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr9:95528000-95528600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr9:95528000-95528600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:95528000-95528600	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr9:95528000-95528600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr9:95528000-95528600	Flanking Active TSS	Fetal Heart	heart
46	chr9:95528000-95528600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr9:95528000-95528600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr9:95528000-95528600	Flanking Active TSS	K562	blood
49	chr9:95528000-95528600	Flanking Active TSS	NHDF-Ad	bronchial
50	chr9:95528000-95528600	Flanking Active TSS	Osteobl	bone

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