Variant report

Variant	rs73446764
Chromosome Location	chr9:72877170-72877171
allele	C/T
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	RELA	chr9:72877084-72878130	GM12878	blood:	n/a	n/a
2	RUNX3	chr9:72877152-72877866	GM12878	blood:	n/a	n/a
3	NFIC	chr9:72877145-72878106	GM12878	blood:	n/a	chr9:72877904-72877921 chr9:72877904-72877920
4	NFYB	chr9:72877166-72877630	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72874893..72877687-chr9:72912931..72914790,2	K562	blood:

Variant related genes	Relation type
SMC5-AS1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs35534839	1.00[AMR][1000 genomes]
rs58615277	1.00[AMR][1000 genomes]
rs59725916	1.00[AMR][1000 genomes]
rs60551452	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446777	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446778	1.00[AMR][1000 genomes]
rs73446779	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446789	0.86[AFR][1000 genomes]
rs73446793	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73448646	1.00[AMR][1000 genomes]
rs73448651	1.00[AMR][1000 genomes]
rs73448660	1.00[AMR][1000 genomes]
rs73448663	1.00[AMR][1000 genomes]
rs73448670	1.00[AMR][1000 genomes]
rs73448904	1.00[AMR][1000 genomes]
rs73449496	1.00[AMR][1000 genomes]
rs73451455	1.00[AMR][1000 genomes]
rs73452732	1.00[AMR][1000 genomes]
rs73452740	1.00[AMR][1000 genomes]
rs73452742	1.00[AMR][1000 genomes]
rs73452745	1.00[AMR][1000 genomes]
rs73452756	1.00[AMR][1000 genomes]
rs73454766	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454769	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456610	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72874800-72878600	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr9:72874800-72879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:72875000-72877600	Enhancers	Liver	Liver
4	chr9:72875000-72878000	Enhancers	Psoas Muscle	Psoas
5	chr9:72875000-72879200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:72875000-72879400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:72875200-72877600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr9:72875200-72878600	Enhancers	Small Intestine	intestine
10	chr9:72875200-72901400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:72875400-72877600	Genic enhancers	NHEK	skin
12	chr9:72875400-72877800	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr9:72875400-72879200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:72875400-72879400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:72875400-72906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:72875600-72877200	Genic enhancers	Brain Hippocampus Middle	brain
17	chr9:72875600-72877400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
18	chr9:72875600-72877600	Genic enhancers	A549	lung
19	chr9:72875600-72877800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:72875600-72877800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:72875600-72877800	Genic enhancers	K562	blood
22	chr9:72875600-72878600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr9:72875600-72878600	Enhancers	Colon Smooth Muscle	Colon
24	chr9:72875600-72879200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr9:72875800-72877200	Genic enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:72875800-72877400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:72875800-72877400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
28	chr9:72875800-72877400	Enhancers	HMEC	breast
29	chr9:72875800-72877600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:72875800-72877600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:72875800-72878000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr9:72875800-72878400	Enhancers	Fetal Brain Female	brain
33	chr9:72875800-72878600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr9:72875800-72878600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr9:72875800-72878800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:72875800-72879200	Weak transcription	Fetal Kidney	kidney
37	chr9:72875800-72884200	Weak transcription	Lung	lung
38	chr9:72876000-72877200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr9:72876000-72877400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr9:72876000-72877400	Weak transcription	Primary B cells from cord blood	blood
41	chr9:72876000-72877800	Genic enhancers	HepG2	liver
42	chr9:72876000-72878200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr9:72876000-72878400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:72876000-72878400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr9:72876000-72878600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:72876000-72879800	Weak transcription	Left Ventricle	heart
47	chr9:72876000-72882400	Weak transcription	Fetal Intestine Small	intestine
48	chr9:72876000-72882400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr9:72876000-72883200	Strong transcription	Placenta	Placenta
50	chr9:72876000-72887600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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