Variant report

Variant	rs72712284
Chromosome Location	chr9:72889412-72889413
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72874733..72877104-chr9:72888484..72890137,2	K562	blood:
2	chr9:72880580..72882799-chr9:72889406..72891309,2	K562	blood:
3	chr9:72873479..72876233-chr9:72887388..72890137,3	K562	blood:

Variant related genes	Relation type
ENSG00000198887	Chromatin interaction
ENSG00000268364	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10868798	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1104709	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11142141	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11142346	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11142355	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11791792	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11793851	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180085	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1180090	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1180093	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1180095	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1180109	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1180116	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180131	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338030	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12346675	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12684881	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2183361	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4744593	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58704591	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62570318	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7019433	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7028657	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712267	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72712271	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7847861	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7868421	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7873075	0.94[EUR][1000 genomes];0.96[ASN][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72875000-72949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72875200-72901400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:72875400-72906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72876000-72898200	Weak transcription	Fetal Brain Male	brain
5	chr9:72876000-72906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:72876400-72916800	Weak transcription	Colonic Mucosa	Colon
7	chr9:72876400-72939400	Weak transcription	Spleen	Spleen
8	chr9:72876400-72942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:72876400-72955200	Weak transcription	Stomach Mucosa	stomach
10	chr9:72876800-72900200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:72877000-72895400	Weak transcription	Right Ventricle	heart
12	chr9:72877000-72904800	Weak transcription	Brain Germinal Matrix	brain
13	chr9:72877000-72939800	Weak transcription	Gastric	stomach
14	chr9:72877000-72942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:72877600-72909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:72877600-72935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:72877800-72892000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:72878400-72895000	Weak transcription	Fetal Brain Female	brain
19	chr9:72878600-72889800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:72878600-72899600	Weak transcription	Fetal Heart	heart
21	chr9:72878600-72899800	Weak transcription	Small Intestine	intestine
22	chr9:72878600-72902400	Weak transcription	Brain Angular Gyrus	brain
23	chr9:72878600-72937600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr9:72879000-72898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:72879400-72891000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:72880000-72891000	Weak transcription	Fetal Kidney	kidney
27	chr9:72880000-72895600	Weak transcription	Brain Substantia Nigra	brain
28	chr9:72880000-72939400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr9:72880200-72895400	Weak transcription	NHEK	skin
30	chr9:72880200-72906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:72880400-72895200	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:72880400-72895400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr9:72880400-72900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:72880800-72895400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr9:72881000-72905000	Weak transcription	Brain Hippocampus Middle	brain
36	chr9:72881000-72905000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:72881600-72895400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr9:72882800-72893400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr9:72882800-72899800	Weak transcription	Ovary	ovary
40	chr9:72882800-72906000	Weak transcription	K562	blood
41	chr9:72883200-72899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:72884600-72899800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:72884800-72894800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:72885000-72893400	Weak transcription	Placenta	Placenta
45	chr9:72885000-72894800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:72885200-72892800	Weak transcription	NH-A	brain
47	chr9:72885200-72894000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:72885200-72895000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr9:72885200-72895200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr9:72885200-72895400	Weak transcription	NHLF	lung

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