Variant report

Variant	rs60551452
Chromosome Location	chr9:72968630-72968631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72962840..72966479-chr9:72967543..72971409,5	K562	blood:
2	chr9:72957661..72959834-chr9:72968408..72970281,2	MCF-7	breast:

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]
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]
rs73456638	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
2	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:72943600-72970800	Weak transcription	Gastric	stomach
4	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
6	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
9	chr9:72944200-72974800	Weak transcription	Lung	lung
10	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
11	chr9:72948400-72980800	Weak transcription	NHEK	skin
12	chr9:72952200-72972800	Weak transcription	A549	lung
13	chr9:72957600-72969400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:72959000-72969000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:72960200-72969200	Strong transcription	Dnd41	blood
16	chr9:72960400-72969000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:72960600-72968800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:72962000-72972000	Weak transcription	Brain Anterior Caudate	brain
19	chr9:72962200-72969200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:72962200-72974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr9:72963800-72972400	Weak transcription	Thymus	Thymus
22	chr9:72963800-72977800	Weak transcription	Esophagus	oesophagus
23	chr9:72964200-72980800	Weak transcription	Pancreas	Pancrea
24	chr9:72964400-72974000	Weak transcription	Fetal Intestine Small	intestine
25	chr9:72964800-72975200	Weak transcription	Primary B cells from cord blood	blood
26	chr9:72965000-72973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:72965400-72971000	Weak transcription	HepG2	liver
28	chr9:72965400-72975000	Weak transcription	Brain Germinal Matrix	brain
29	chr9:72965600-72969000	Weak transcription	Fetal Kidney	kidney
30	chr9:72965600-72970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:72965600-72971000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr9:72965600-72974600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr9:72965800-72968800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:72965800-72974000	Weak transcription	Fetal Brain Female	brain
35	chr9:72965800-72974400	Weak transcription	Brain Substantia Nigra	brain
36	chr9:72965800-72974400	Weak transcription	GM12878-XiMat	blood
37	chr9:72965800-72974600	Weak transcription	Fetal Brain Male	brain
38	chr9:72965800-72976000	Weak transcription	Hela-S3	cervix
39	chr9:72965800-72976400	Weak transcription	Fetal Lung	lung
40	chr9:72965800-72979600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr9:72966000-72971800	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:72966000-72972400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:72966200-72970800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:72966200-72972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:72966200-72972200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:72966200-72972400	Weak transcription	Left Ventricle	heart
47	chr9:72966400-72971800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:72966400-72974600	Weak transcription	Fetal Intestine Large	intestine
49	chr9:72966400-72978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:72966600-72974400	Weak transcription	HMEC	breast

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