Variant report

Variant	rs73456638
Chromosome Location	chr9:72952688-72952689
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72947673..72949257-chr9:72951564..72953120,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs35534839	1.00[AMR][1000 genomes]
rs58615277	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59725916	1.00[AMR][1000 genomes]
rs60551452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446764	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446778	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446789	1.00[AFR][1000 genomes]
rs73446793	1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451455	1.00[AMR][1000 genomes]
rs73452732	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452740	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452742	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452745	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452756	1.00[AMR][1000 genomes]
rs73454766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456610	1.00[AFR][1000 genomes];1.00[AMR][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	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
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
2	chr9:72913800-72957800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:72926400-72965000	Weak transcription	Fetal Brain Male	brain
4	chr9:72926400-72967000	Weak transcription	Fetal Heart	heart
5	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
6	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:72940400-72954400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:72941200-72965000	Weak transcription	Hela-S3	cervix
9	chr9:72941400-72965200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:72942200-72953800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:72942800-72961400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:72943000-72966400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr9:72943000-72966600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:72943200-72968600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:72943400-72963400	Weak transcription	HepG2	liver
16	chr9:72943400-72967200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:72943600-72953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:72943600-72955800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:72943600-72970800	Weak transcription	Gastric	stomach
20	chr9:72944000-72957600	Weak transcription	Brain Anterior Caudate	brain
21	chr9:72944000-72962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:72944000-72963200	Weak transcription	Pancreas	Pancrea
23	chr9:72944000-72963400	Weak transcription	Small Intestine	intestine
24	chr9:72944000-72963600	Weak transcription	Fetal Brain Female	brain
25	chr9:72944000-72965200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:72944000-72965200	Weak transcription	Colonic Mucosa	Colon
27	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
29	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:72944200-72953800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:72944200-72961400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr9:72944200-72961600	Weak transcription	Brain Germinal Matrix	brain
34	chr9:72944200-72961800	Weak transcription	Brain Angular Gyrus	brain
35	chr9:72944200-72963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:72944200-72963400	Weak transcription	Esophagus	oesophagus
37	chr9:72944200-72964600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:72944200-72968600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
40	chr9:72944200-72974800	Weak transcription	Lung	lung
41	chr9:72944400-72959600	Weak transcription	NHLF	lung
42	chr9:72944400-72963200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:72944400-72963800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:72944400-72964000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:72944400-72965200	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:72944400-72965200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:72944400-72966000	Weak transcription	Right Ventricle	heart
48	chr9:72944600-72964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:72944800-72960800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:72945000-72960200	Weak transcription	Primary hematopoietic stem cells	blood

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